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Berg F, Köper E, Limberg AS, Mattonet K, Budeus B, Kumsta R, Hummel EM, Moser DA. Development and validation of a novel cell type estimation method for targeted bisulfite sequencing data. Epigenomics 2025; 17:389-396. [PMID: 40098449 PMCID: PMC11980480 DOI: 10.1080/17501911.2025.2479423] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/10/2024] [Accepted: 03/10/2025] [Indexed: 03/19/2025] Open
Abstract
AIMS Epidemiological studies of DNA methylation often use buccal swabs, which contain mixtures of cell types, but no low-cost methods exist for statistical correction in candidate gene studies using targeted bisulfite sequencing. This study aims to address this gap by estimating the proportion of buccal epithelial cells in swab and mouthwash samples. MATERIALS & METHODS We applied a recently described and smoothly to implement method for estimating the proportion of buccal epithelial cells in buccal swab and mouthwash samples using targeted bisulfite sequencing. Additionally, we investigated the methylation of actinin alpha 3 (ACTN3), a marker for cell type-specific methylation, following psychosocial and physical stress. RESULTS The proposed estimation method showed strong correlation with the EpiDISH algorithm and effectively controlled for cellular heterogeneity. Over 90% of the variance in ACTN3 methylation was explained by including the epithelial cell proportion in the model. CONCLUSION Our findings provide a solution for controlling cellular heterogeneity in buccal swab and mouthwash DNA methylation studies. This method is particularly relevant for candidate gene studies in clinical settings, but future work should refine it for more detailed analyses of cell type proportions to improve precision.
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Affiliation(s)
- F. Berg
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Bochum, Germany
| | - E. Köper
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Bochum, Germany
| | - A. S. Limberg
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Bochum, Germany
| | - K. Mattonet
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Bochum, Germany
| | - B. Budeus
- Institute of Cell Biology, Medical Faculty, University of Duisburg-Essen, Essen, Germany
| | - R. Kumsta
- Department of Behavioural and Cognitive Sciences, Laboratory for Stress and Gene-Environment Interplay, University of Luxemburg, Esch-sur-Alzette, Luxemburg
| | - E. M. Hummel
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Bochum, Germany
| | - D. A. Moser
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Bochum, Germany
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2
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Normand-Gravier T, Solsona R, Dablainville V, Racinais S, Borrani F, Bernardi H, Sanchez AMJ. Effects of thermal interventions on skeletal muscle adaptations and regeneration: perspectives on epigenetics: a narrative review. Eur J Appl Physiol 2025; 125:277-301. [PMID: 39607529 PMCID: PMC11829912 DOI: 10.1007/s00421-024-05642-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/16/2024] [Accepted: 10/12/2024] [Indexed: 11/29/2024]
Abstract
Recovery methods, such as thermal interventions, have been developed to promote optimal recovery and maximize long-term training adaptations. However, the beneficial effects of these recovery strategies remain a source of controversy. This narrative review aims to provide a detailed understanding of how cold and heat interventions impact long-term training adaptations. Emphasis is placed on skeletal muscle adaptations, particularly the involvement of signaling pathways regulating protein turnover, ribosome and mitochondrial biogenesis, as well as the critical role of satellite cells in promoting myofiber regeneration following atrophy. The current literature suggests that cold interventions can blunt molecular adaptations (e.g., protein synthesis and satellite cell activation) and oxi-inflammatory responses after resistance exercise, resulting in diminished exercise-induced hypertrophy and lower gains in isometric strength during training protocols. Conversely, heat interventions appear promising for mitigating skeletal muscle degradation during immobilization and atrophy. Indeed, heat treatments (e.g., passive interventions such as sauna-bathing or diathermy) can enhance protein turnover and improve the maintenance of muscle mass in atrophic conditions, although their effects on uninjured skeletal muscles in both humans and rodents remain controversial. Nonetheless, heat treatment may serve as an important tool for attenuating atrophy and preserving mitochondrial function in immobilized or injured athletes. Finally, the potential interplay between exercise, thermal interventions and epigenetics is discussed. Future studies must be encouraged to clarify how repeated thermal interventions (heat and cold) affect long-term exercise training adaptations and to determine the optimal modalities (i.e., method of application, temperature, duration, relative humidity, and timing).
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Affiliation(s)
- Tom Normand-Gravier
- UMR866, Dynamique du Muscle et Métabolisme (DMeM), INRAE, University of Montpellier, Montpellier, France
- Laboratoire Interdisciplinaire Performance Santé Environnement de Montagne (LIPSEM), Faculty of Sports Sciences, University of Perpignan Via Domitia, UR 4640, 7 Avenue Pierre de Coubertin, 66120, Font-Romeu, France
| | - Robert Solsona
- Laboratoire Interdisciplinaire Performance Santé Environnement de Montagne (LIPSEM), Faculty of Sports Sciences, University of Perpignan Via Domitia, UR 4640, 7 Avenue Pierre de Coubertin, 66120, Font-Romeu, France
| | - Valentin Dablainville
- UMR866, Dynamique du Muscle et Métabolisme (DMeM), INRAE, University of Montpellier, Montpellier, France
- Research and Scientific Support Department, Aspetar Orthopedic and Sports Medicine Hospital, 29222, Doha, Qatar
| | - Sébastien Racinais
- Environmental Stress Unit, CREPS Montpellier-Font-Romeu, Montpellier, France
| | - Fabio Borrani
- Institute of Sport Sciences, University of Lausanne, Lausanne, Switzerland
| | - Henri Bernardi
- UMR866, Dynamique du Muscle et Métabolisme (DMeM), INRAE, University of Montpellier, Montpellier, France
| | - Anthony M J Sanchez
- Institute of Sport Sciences, University of Lausanne, Lausanne, Switzerland.
- Laboratoire Interdisciplinaire Performance Santé Environnement de Montagne (LIPSEM), Faculty of Sports Sciences, University of Perpignan Via Domitia, UR 4640, 7 Avenue Pierre de Coubertin, 66120, Font-Romeu, France.
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3
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Limberg AS, Berg F, Köper E, Lindgraf C, Gevers C, Kumsta R, Hummel EM, Moser DA. Cell-free DNA release following psychosocial and physical stress in women and men. Transl Psychiatry 2025; 15:26. [PMID: 39863589 PMCID: PMC11763022 DOI: 10.1038/s41398-025-03242-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/25/2024] [Revised: 12/05/2024] [Accepted: 01/14/2025] [Indexed: 01/27/2025] Open
Abstract
Cell-free DNA (cfDNA) is continuously shed by all cells in the body, but the regulation of this process and its physiological functions are still largely unknown. Previous research has demonstrated that both nuclear (cf-nDNA) and mitochondrial (cf-mtDNA) cfDNA levels increase in plasma in response to acute psychosocial and physical stress in males. This study further investigated these findings by testing 31 female participants (16 using oral hormonal contraception and 15 not using oral hormonal contraception), and the results were subsequently compared with those of 16 male participants. In addition, cf-nDNA and cf-mtDNA were comparatively quantified in both plasma and saliva at four time points, 2 min before and 2, 15, and 45 min after stress induction. A novel method was implemented to facilitate the straightforward collection of capillary blood by non-medical personnel for plasma analysis. While cf-mtDNA is readily detectable in body fluids due to its high copy number, the quantification of cf-nDNA is challenging due to its low abundance. To overcome this, a multiplex quantitative polymerase chain reaction (qPCR) protocol targeting L1PA2 elements, which are prevalent in the human genome, was utilized. The analysis indicated significantly elevated levels of cf-nDNA in both plasma and saliva in all participants, irrespective of gender, following psychosocial and physical stress. Conversely, neither plasma nor saliva exhibited a consistent or stress-induced release pattern for cf-mtDNA. CfDNA is a promising biomarker that is consistently released after stress in both men and women and can be detected in both plasma and saliva. However, further research is necessary to elucidate the mechanisms of cfDNA release from specific cells and to understand its biological function in the body.
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Affiliation(s)
- A S Limberg
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Universitätsstraße 150, Bochum, Germany
| | - F Berg
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Universitätsstraße 150, Bochum, Germany
| | - E Köper
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Universitätsstraße 150, Bochum, Germany
| | - C Lindgraf
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Universitätsstraße 150, Bochum, Germany
| | - C Gevers
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Universitätsstraße 150, Bochum, Germany
| | - R Kumsta
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Universitätsstraße 150, Bochum, Germany
- Department of Behavioural and Cognitive Sciences, Laboratory for Stress and Gene-Environment Interplay, University of Luxemburg, Porte des Sciences, Esch-sur-Alzette, Luxembourg
| | - E M Hummel
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Universitätsstraße 150, Bochum, Germany
| | - D A Moser
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Universitätsstraße 150, Bochum, Germany.
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Bıçakçı B, Cięszczyk P, Humińska-Lisowska K. Genetic Determinants of Endurance: A Narrative Review on Elite Athlete Status and Performance. Int J Mol Sci 2024; 25:13041. [PMID: 39684752 PMCID: PMC11641144 DOI: 10.3390/ijms252313041] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/23/2024] [Revised: 11/19/2024] [Accepted: 11/29/2024] [Indexed: 12/18/2024] Open
Abstract
This narrative review explores the relationship between genetics and elite endurance athletes, summarizes the current literature, highlights some novel findings, and provides a physiological basis for understanding the mechanistic effects of genetics in sport. Key genetic markers include ACTN3 R577X (muscle fiber composition), ACE I/D (cardiovascular efficiency), and polymorphisms in PPARA, VEGFA, and ADRB2, influencing energy metabolism, angiogenesis, and cardiovascular function. This review underscores the benefits of a multi-omics approach to better understand the complex interactions between genetic polymorphisms and physiological traits. It also addresses long-standing issues such as small sample sizes in studies and the heterogeneity in heritability estimates influenced by factors like sex. Understanding the mechanistic relationship between genetics and endurance performance can lead to personalized training strategies, injury prevention, and improved health outcomes. Future studies should focus on standardized classification of sports, replication studies involving diverse populations, and establishing solid physiological associations between polymorphisms and endurance traits to advance the field of sports genetics.
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Affiliation(s)
| | | | - Kinga Humińska-Lisowska
- Faculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdańsk, Poland; (B.B.); (P.C.)
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5
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Humińska-Lisowska K. Dopamine in Sports: A Narrative Review on the Genetic and Epigenetic Factors Shaping Personality and Athletic Performance. Int J Mol Sci 2024; 25:11602. [PMID: 39519153 PMCID: PMC11546834 DOI: 10.3390/ijms252111602] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/26/2024] [Revised: 10/22/2024] [Accepted: 10/27/2024] [Indexed: 11/16/2024] Open
Abstract
This narrative review examines the relationship between dopamine-related genetic polymorphisms, personality traits, and athletic success. Advances in sports genetics have identified specific single nucleotide polymorphisms (SNPs) in dopamine-related genes linked to personality traits crucial for athletic performance, such as motivation, cognitive function, and emotional resilience. This review clarifies how genetic variations can influence athletic predisposition through dopaminergic pathways and environmental interactions. Key findings reveal associations between specific SNPs and enhanced performance in various sports. For example, polymorphisms such as COMT Val158Met rs4680 and BDNF Val66Met rs6265 are associated with traits that could benefit performance, such as increased focus, stress resilience and conscientiousness, especially in martial arts. DRD3 rs167771 is associated with higher agreeableness, benefiting teamwork in sports like football. This synthesis underscores the multidimensional role of genetics in shaping athletic ability and advocates for integrating genetic profiling into personalized training to optimize performance and well-being. However, research gaps remain, including the need for standardized training protocols and exploring gene-environment interactions in diverse populations. Future studies should focus on how genetic and epigenetic factors can inform tailored interventions to enhance both physical and psychological aspects of athletic performance. By bridging genetics, personality psychology, and exercise science, this review paves the way for innovative training and performance optimization strategies.
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Affiliation(s)
- Kinga Humińska-Lisowska
- Faculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdańsk, Poland
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6
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Spanakis M, Fragkiadaki P, Renieri E, Vakonaki E, Fragkiadoulaki I, Alegakis A, Kiriakakis M, Panagiotou N, Ntoumou E, Gratsias I, Zoubaneas E, Morozova GD, Ovchinnikova MA, Tsitsimpikou C, Tsarouhas K, Drakoulis N, Skalny AV, Tsatsakis A. Advancing athletic assessment by integrating conventional methods with cutting-edge biomedical technologies for comprehensive performance, wellness, and longevity insights. Front Sports Act Living 2024; 5:1327792. [PMID: 38260814 PMCID: PMC10801261 DOI: 10.3389/fspor.2023.1327792] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/25/2023] [Accepted: 12/19/2023] [Indexed: 01/24/2024] Open
Abstract
In modern athlete assessment, the integration of conventional biochemical and ergophysiologic monitoring with innovative methods like telomere analysis, genotyping/phenotypic profiling, and metabolomics has the potential to offer a comprehensive understanding of athletes' performance and potential longevity. Telomeres provide insights into cellular functioning, aging, and adaptation and elucidate the effects of training on cellular health. Genotype/phenotype analysis explores genetic variations associated with athletic performance, injury predisposition, and recovery needs, enabling personalization of training plans and interventions. Metabolomics especially focusing on low-molecular weight metabolites, reveal metabolic pathways and responses to exercise. Biochemical tests assess key biomarkers related to energy metabolism, inflammation, and recovery. Essential elements depict the micronutrient status of the individual, which is critical for optimal performance. Echocardiography provides detailed monitoring of cardiac structure and function, while burnout testing evaluates psychological stress, fatigue, and readiness for optimal performance. By integrating this scientific testing battery, a multidimensional understanding of athlete health status can be achieved, leading to personalized interventions in training, nutrition, supplementation, injury prevention, and mental wellness support. This scientifically rigorous approach hereby presented holds significant potential for improving athletic performance and longevity through evidence-based, individualized interventions, contributing to advances in the field of sports performance optimization.
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Affiliation(s)
- Marios Spanakis
- Department of Forensic Sciences and Toxicology, School of Medicine, University of Crete, Heraklion, Greece
- Computational Bio-Medicine Laboratory, Institute of Computer Science, Foundation for Research and Technology – Hellas, Heraklion, Greece
- LifePlus Diagnostic & Consulting Health Services, Science Technology Park of Crete, Heraklion, Greece
| | - Persefoni Fragkiadaki
- Department of Forensic Sciences and Toxicology, School of Medicine, University of Crete, Heraklion, Greece
- LifePlus Diagnostic & Consulting Health Services, Science Technology Park of Crete, Heraklion, Greece
| | - Elisavet Renieri
- Department of Forensic Sciences and Toxicology, School of Medicine, University of Crete, Heraklion, Greece
- LifePlus Diagnostic & Consulting Health Services, Science Technology Park of Crete, Heraklion, Greece
| | - Elena Vakonaki
- Department of Forensic Sciences and Toxicology, School of Medicine, University of Crete, Heraklion, Greece
- LifePlus Diagnostic & Consulting Health Services, Science Technology Park of Crete, Heraklion, Greece
| | - Irene Fragkiadoulaki
- Department of Forensic Sciences and Toxicology, School of Medicine, University of Crete, Heraklion, Greece
- LifePlus Diagnostic & Consulting Health Services, Science Technology Park of Crete, Heraklion, Greece
| | - Athanasios Alegakis
- Department of Forensic Sciences and Toxicology, School of Medicine, University of Crete, Heraklion, Greece
- LifePlus Diagnostic & Consulting Health Services, Science Technology Park of Crete, Heraklion, Greece
| | - Mixalis Kiriakakis
- Department of Forensic Sciences and Toxicology, School of Medicine, University of Crete, Heraklion, Greece
- LifePlus Diagnostic & Consulting Health Services, Science Technology Park of Crete, Heraklion, Greece
| | | | | | - Ioannis Gratsias
- Check Up Medicus Biopathology & Ultrasound Diagnostic Center – Polyclinic, Athens, Greece
| | | | - Galina Dmitrievna Morozova
- Bioelementology and Human Ecology Center, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia
| | - Marina Alekseevna Ovchinnikova
- Department of Sport Medicine and Medical Rehabilitation, I.M. Sechenov First Moscow State Medical University (Sechenov Univercity), Moscow, Russia
| | | | | | - Nikolaos Drakoulis
- Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, Athens, Greece
| | - Anatoly Viktorovich Skalny
- Bioelementology and Human Ecology Center, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia
- Medical Elementology Department, Peoples Friendship University of Russia, Moscow, Russia
| | - Aristides Tsatsakis
- Department of Forensic Sciences and Toxicology, School of Medicine, University of Crete, Heraklion, Greece
- Computational Bio-Medicine Laboratory, Institute of Computer Science, Foundation for Research and Technology – Hellas, Heraklion, Greece
- LifePlus Diagnostic & Consulting Health Services, Science Technology Park of Crete, Heraklion, Greece
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7
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Jacques M, Landen S, Romero JA, Hiam D, Schittenhelm RB, Hanchapola I, Shah AD, Voisin S, Eynon N. Methylome and proteome integration in human skeletal muscle uncover group and individual responses to high-intensity interval training. FASEB J 2023; 37:e23184. [PMID: 37698381 DOI: 10.1096/fj.202300840rr] [Citation(s) in RCA: 6] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/26/2023] [Revised: 08/17/2023] [Accepted: 08/24/2023] [Indexed: 09/13/2023]
Abstract
Exercise is a major beneficial contributor to muscle metabolism, and health benefits acquired by exercise are a result of molecular shifts occurring across multiple molecular layers (i.e., epigenome, transcriptome, and proteome). Identifying robust, across-molecular level targets associated with exercise response, at both group and individual levels, is paramount to develop health guidelines and targeted health interventions. Sixteen, apparently healthy, moderately trained (VO2 max = 51.0 ± 10.6 mL min-1 kg-1 ) males (age range = 18-45 years) from the Gene SMART (Skeletal Muscle Adaptive Responses to Training) study completed a longitudinal study composed of 12-week high-intensity interval training (HIIT) intervention. Vastus lateralis muscle biopsies were collected at baseline and after 4, 8, and 12 weeks of HIIT. DNA methylation (~850 CpG sites) and proteomic (~3000 proteins) analyses were conducted at all time points. Mixed models were applied to estimate group and individual changes, and methylome and proteome integration was conducted using a holistic multilevel approach with the mixOmics package. A total of 461 proteins significantly changed over time (at 4, 8, and 12 weeks), whilst methylome overall shifted with training only one differentially methylated position (DMP) was significant (adj.p-value < .05). K-means analysis revealed cumulative protein changes by clusters of proteins that presented similar changes over time. Individual responses to training were observed in 101 proteins. Seven proteins had large effect-sizes >0.5, among them are two novel exercise-related proteins, LYRM7 and EPN1. Integration analysis showed bidirectional relationships between the methylome and proteome. We showed a significant influence of HIIT on the epigenome and more so on the proteome in human muscle, and uncovered groups of proteins clustering according to similar patterns across the exercise intervention. Individual responses to exercise were observed in the proteome with novel mitochondrial and metabolic proteins consistently changed across individuals. Future work is required to elucidate the role of these proteins in response to exercise.
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Affiliation(s)
- Macsue Jacques
- Institute for Health and Sport (iHeS), Victoria University, Melbourne, Victoria, Australia
| | - Shanie Landen
- Institute for Health and Sport (iHeS), Victoria University, Melbourne, Victoria, Australia
| | - Javier Alvarez Romero
- Institute for Health and Sport (iHeS), Victoria University, Melbourne, Victoria, Australia
| | - Danielle Hiam
- Institute for Health and Sport (iHeS), Victoria University, Melbourne, Victoria, Australia
- Institute of Nutrition and Health Sciences, Deakin University, Melbourne, Victoria, Australia
| | - Ralf B Schittenhelm
- Monash Proteomics & Metabolomics Facility, Monash University, Melbourne, Victoria, Australia
| | - Iresha Hanchapola
- Monash Proteomics & Metabolomics Facility, Monash University, Melbourne, Victoria, Australia
| | - Anup D Shah
- Monash Proteomics & Metabolomics Facility, Monash University, Melbourne, Victoria, Australia
| | - Sarah Voisin
- Institute for Health and Sport (iHeS), Victoria University, Melbourne, Victoria, Australia
- Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
| | - Nir Eynon
- Institute for Health and Sport (iHeS), Victoria University, Melbourne, Victoria, Australia
- Australian Regenerative Medicine Institute, Monash University, Melbourne, Victoria, Australia
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8
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Konopka MJ, Sperlich B, Rietjens G, Zeegers MP. Genetics and athletic performance: a systematic SWOT analysis of non-systematic reviews. Front Genet 2023; 14:1232987. [PMID: 37621703 PMCID: PMC10445150 DOI: 10.3389/fgene.2023.1232987] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/08/2023] [Accepted: 07/26/2023] [Indexed: 08/26/2023] Open
Abstract
Exercise genetics/genomics is a growing research discipline comprising several Strengths and Opportunities but also deals with Weaknesses and Threats. This "systematic SWOT overview of non-systematic reviews" (sSWOT) aimed to identify the Strengths, Weaknesses, Opportunities, and Threats linked to exercise genetics/genomics. A systematic search was conducted in the Medline and Embase databases for non-systematic reviews to provide a comprehensive overview of the current literature/research area. The extracted data was thematically analyzed, coded, and categorized into SWOT clusters. In the 45 included reviews five Strengths, nine Weaknesses, six Opportunities, and three Threats were identified. The cluster of Strengths included "advances in technology", "empirical evidence", "growing research discipline", the "establishment of consortia", and the "acceptance/accessibility of genetic testing". The Weaknesses were linked to a "low research quality", the "complexity of exercise-related traits", "low generalizability", "high costs", "genotype scores", "reporting bias", "invasive methods", "research progress", and "causality". The Opportunities comprised of "precision exercise", "omics", "multicenter studies", as well as "genetic testing" as "commercial"-, "screening"-, and "anti-doping" detection tool. The Threats were related to "ethical issues", "direct-to-consumer genetic testing companies", and "gene doping". This overview of the present state of the art research in sport genetics/genomics indicates a field with great potential, while also drawing attention to the necessity for additional advancement in methodological and ethical guidance to mitigate the recognized Weaknesses and Threats. The recognized Strengths and Opportunities substantiate the capability of genetics/genomics to make significant contributions to the performance and wellbeing of athletes.
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Affiliation(s)
- Magdalena Johanna Konopka
- Care and Public Health Research Institute, Maastricht University, Maastricht, Netherlands
- Department of Epidemiology, Maastricht University, Maastricht, Netherlands
| | - Billy Sperlich
- Integrative and Experimental Exercise Science and Training, Institute of Sport Science, University of Würzburg, Würzburg, Germany
| | - Gerard Rietjens
- Human Physiology and Sports Physiotherapy Research Group, Vrije Universiteit Brussel, Brussels, Belgium
| | - Maurice Petrus Zeegers
- Care and Public Health Research Institute, Maastricht University, Maastricht, Netherlands
- Department of Epidemiology, Maastricht University, Maastricht, Netherlands
- School of Nutrition and Translational Research in Metabolism, Maastricht University, Maastricht, Netherlands
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9
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Berg F, Moser DA, Hagena V, Streit F, Mosch B, Kumsta R, Herpertz S, Diers M. MicroRNA-Related Polymorphism and Their Association with Fibromyalgia. Genes (Basel) 2023; 14:1312. [PMID: 37510217 PMCID: PMC10379154 DOI: 10.3390/genes14071312] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/26/2023] [Revised: 06/19/2023] [Accepted: 06/20/2023] [Indexed: 07/30/2023] Open
Abstract
MicroRNAs are tissue-specific expressed short RNAs that serve post-transcriptional gene regulation. A specific microRNA can bind to mRNAs of different genes and thereby suppress their protein production. In the context of the complex phenotype of fibromyalgia, we used the Axiom miRNA Target Site Genotyping Array to search genome-wide for DNA variations in microRNA genes, their regulatory regions, and in the 3'UTR of protein-coding genes. To identify disease-relevant DNA polymorphisms, a cohort of 176 female fibromyalgia patients was studied in comparison to a cohort of 162 healthy women. The association between 48,329 markers and fibromyalgia was investigated using logistic regression adjusted for population stratification. Results show that 29 markers had p-values < 1 × 10-3, and the strongest association was observed for rs758459 (p-value of 0.0001), located in the Neurogenin 1 gene which is targeted by hsa-miR-130a-3p. Furthermore, variant rs2295963 is predicted to affect binding of hsa-miR-1-3p. Both microRNAs were previously reported to be differentially expressed in fibromyalgia patients. Despite its limited statistical power, this study reports two microRNA-related polymorphisms which may play a functional role in the pathogenesis of fibromyalgia. For a better understanding of the disease pattern, further functional analyses on the biological significance of microRNAs and microRNA-related polymorphisms are required.
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Affiliation(s)
- Fabian Berg
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Universitätsstraße 150, 44801 Bochum, Germany
| | - Dirk A Moser
- Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Universitätsstraße 150, 44801 Bochum, Germany
| | - Verena Hagena
- Department of Psychosomatic Medicine and Psychotherapy, LWL University Hospital, Ruhr University Bochum, 448791 Bochum, Germany
| | - Fabian Streit
- Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, 68159 Mannheim, Germany
| | - Benjamin Mosch
- Department of Psychosomatic Medicine and Psychotherapy, LWL University Hospital, Ruhr University Bochum, 448791 Bochum, Germany
| | - Robert Kumsta
- Department of Behavioural and Cognitive Sciences, Laboratory for Stress and Gene-Environment Interplay, University of Luxemburg, Porte des Sciences, L-4366 Esch-sur-Alzette, Luxembourg
| | - Stephan Herpertz
- Department of Psychosomatic Medicine and Psychotherapy, LWL University Hospital, Ruhr University Bochum, 448791 Bochum, Germany
| | - Martin Diers
- Department of Psychosomatic Medicine and Psychotherapy, LWL University Hospital, Ruhr University Bochum, 448791 Bochum, Germany
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10
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The association between childhood motor performance and developmental trajectories of sport participation over 5 years in Danish students aged 6-16-year-old. Sci Rep 2023; 13:4133. [PMID: 36914739 PMCID: PMC10009835 DOI: 10.1038/s41598-023-31344-x] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/13/2022] [Accepted: 03/10/2023] [Indexed: 03/16/2023] Open
Abstract
Sports participation has potential to promote physical activity in youth. Unfortunately, sports participation and physical activity may decline from childhood to adolescence and into adulthood. Globally, only 20% of 13-15-year-olds meet the World Health Organisation recommendations for physical activity. This study aimed to investigate the 5-year trajectories of sports participation and their association with baseline motor performance in Danish school children as part of the Childhood Health Activity and Motor Performance School Study-Denmark (CHAMPS-DK), a school-based physical activity intervention study which investigated the health benefits of increased physical education lessons. Five distinct trajectories were identified, with group 1 maintained a stable trajectory of little to no sports participation, and group 2 showing a low decreasing trend. Group 3-5, the most sports active, demonstrated increasing sport participation at different rates. Baseline motor performance score was associated with the two most active sports participation groups. Students who were more physically active during school hours participated less in organised leisure time sports. This suggest focusing on improving motor performance in youth may support future sports participation and thus health-related physical activity. But also, that it might be necessary to engage and maintain children and adolescents in leisure time sports while implementing physical activity promotion interventions.
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11
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Kiefer AW, Martin DT. Phenomics in sport: Can emerging methodology drive advanced insights? FRONTIERS IN NETWORK PHYSIOLOGY 2022; 2:1060858. [PMID: 36926080 PMCID: PMC10012997 DOI: 10.3389/fnetp.2022.1060858] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 10/03/2022] [Accepted: 11/08/2022] [Indexed: 11/27/2022]
Abstract
Methodologies in applied sport science have predominantly driven a reductionist grounding to component-specific mechanisms to drive athlete training and care. While linear mechanistic approaches provide useful insights, they have impeded progress in the development of more complex network physiology models that consider the temporal and spatial interactions of multiple factors within and across systems and subsystems. For this, a more sophisticated approach is needed and the development of such a methodological framework can be considered a Sport Grand Challenge. Specifically, a transdisciplinary phenomics-based scientific and modeling framework has merit. Phenomics is a relatively new area in human precision medicine, but it is also a developed area of research in the plant and evolutionary biology sciences. The convergence of innovative precision medicine, portable non-destructive measurement technologies, and advancements in modeling complex human behavior are central for the integration of phenomics into sport science. The approach enables application of concepts such as phenotypic fitness, plasticity, dose-response dynamics, critical windows, and multi-dimensional network models of behavior. In addition, profiles are grounded in indices of change, and models consider the athlete's performance or recovery trajectory as a function of their dynamic environment. This new framework is introduced across several example sport science domains for potential integration. Specific factors of emphasis are provided as potential candidate fitness variables and example profiles provide a generalizable modeling approach for precision training and care. Finally, considerations for the future are discussed, including scaling from individual athletes to teams and additional factors necessary for the successful implementation of phenomics.
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Affiliation(s)
- Adam W. Kiefer
- Department of Exercise and Sport Science, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States
| | - David T. Martin
- Apeiron Life, Menlo Park, CA, United States
- School of Behavioral and Health Sciences, Australia Catholic University, Melbourne, NSW, Australia
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Malczewska-Lenczowska J, Orysiak J, Majorczyk E, Sitkowski D, Starczewski M, Żmijewski P. HIF-1α and NFIA-AS2 Polymorphisms as Potential Determinants of Total Hemoglobin Mass in Endurance Athletes. J Strength Cond Res 2022; 36:1596-1604. [PMID: 35622109 DOI: 10.1519/jsc.0000000000003686] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/26/2022]
Abstract
ABSTRACT Malczewska-Lenczowska, J, Orysiak, J, Majorczyk, E, Sitkowski, D, Starczewski, M, and Żmijewski, P. HIF-1α and NFIA-AS2 polymorphisms as potential determinants of total hemoglobin mass in endurance athletes. J Strength Cond Res 36(6): 1596-1604, 2022-The aims of this study were to examine (1) the genotype distribution of rs11549465:C>T of the HIF-1α gene and rs1572312:C>A of the NFIA-AS2 gene; (2) the association between the genes and hematological status in endurance-oriented athletes; and (3) the association between the NFIA-AS2 gene and aerobic capacity in cyclists. Two hundred thirty-eight well-trained athletes (female n = 90, male n = 148) participated in the study. Total hemoglobin mass (tHbmass), blood morphology, intravascular volumes, i.e., erythrocyte volume (EV), blood volume (BV) and plasma volume (PV), and aerobic capacity indices, e.g., peak oxygen uptake (V̇o2peak), and power at anaerobic threshold (PAT) were determined. In both studied genes, the CC genotype was predominant. In the HIF-1α gene, there were no differences in genotype and allele distribution among athletes from different disciplines and between sexes. The distribution of genotypes and alleles of the NFIA-AS2 gene differed significantly in male athletes; the frequency of A allele carriers (CA + AA) was significantly higher in cyclists than in rowers and middle- and long-distance runners. The athletes with CC genotype of NF1A-AS2 had significantly higher relative values of: tHbmass (total female athletes, cyclists), PV, BV (cyclists), and EV (total male athletes, cyclists) and PAT (cyclists) than A allele carriers (CA + AA genotypes). In conclusion, our study indicates that NFIA-AS2 rs1572312:C>A polymorphism was associated with hematological status in endurance athletes, as well as aerobic capacity indices in male cyclists. It suggests that this polymorphism may be a determinant of quantity of hemoglobin and intrtavascular volumes, which in turn can have an impact on aerobic performance.
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Affiliation(s)
| | - Joanna Orysiak
- Department of Ergonomics, Central Institute for Labour Protection, National Research Institute, Warsaw, Poland
| | - Edyta Majorczyk
- Faculty of Physical Education and Physiotherapy, Institute of Physiotherapy, University of Technology, Opole, Poland
| | - Dariusz Sitkowski
- Department of Physiology, Institute of Sport-National Research Institute, Warsaw, Poland; and
| | - Michał Starczewski
- Department of Physiology, Institute of Sport-National Research Institute, Warsaw, Poland; and
| | - Piotr Żmijewski
- Department of Physiology, Institute of Sport-National Research Institute, Warsaw, Poland; and
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13
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Pasqualetti M, Onori ME, Canu G, Moretti G, Minucci A, Baroni S, Mordente A, Urbani A, Galvani C. The Relationship between ACE, ACTN3 and MCT1 Genetic Polymorphisms and Athletic Performance in Elite Rugby Union Players: A Preliminary Study. Genes (Basel) 2022; 13:genes13060969. [PMID: 35741731 PMCID: PMC9222624 DOI: 10.3390/genes13060969] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/22/2022] [Revised: 05/23/2022] [Accepted: 05/24/2022] [Indexed: 12/04/2022] Open
Abstract
Athletic performance is influenced by many factors such as the environment, diet, training and endurance or speed in physical effort and by genetic predisposition. Just a few studies have analyzed the impact of genotypes on physical performance in rugby. The aim of this study was to verify the modulation of genetic influence on rugby-specific physical performance. Twenty-seven elite rugby union players were involved in the study during the in-season phase. Molecular genotyping was performed for: angiotensin-converting enzyme (ACE rs4646994), alfa-actinin-3 (ACTN3 rs1815739) and monocarboxylate transporter 1 (MCT1 rs1049434) and their variants. Lean mass index (from skinfolds), lower-limb explosive power (countermovement jump), agility (505), speed (20 m), maximal aerobic power (Yo-yo intermittent recovery test level 1) and repeated sprint ability (12 × 20 m) were evaluated. In our rugby union players ACE and ACTN3 variants did not show any influence on athletic performance. MCT1 analysis showed that TT-variant players had the highest peak vertical power (p = 0.037) while the ones with the AA genotype were the fastest in both agility and sprint tests (p = 0.006 and p = 0.012, respectively). Considering the T-dominant model, the AA genotype remains the fastest in both tests (agility: p = 0.013, speed: p = 0.017). Only the MCT1 rs1049434 A allele seems to be advantageous for elite rugby union players, particularly when power and speed are required.
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Affiliation(s)
- Massimo Pasqualetti
- UOC di Chimica Biochimica e Biologia Molecolare Clinica, Fondazione Policlinico Universitario A. Gemelli I.R.C.C.S., Via della Pineta Sacchetti 217, 00168 Rome, Italy; (M.P.); (M.E.O.); (G.C.); (G.M.); (A.M.); (S.B.); (A.U.)
- Dipartimento di Scienze Biotecnologiche di Base, Cliniche Intensivologiche e Perioperatorie, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168 Rome, Italy;
| | - Maria Elisabetta Onori
- UOC di Chimica Biochimica e Biologia Molecolare Clinica, Fondazione Policlinico Universitario A. Gemelli I.R.C.C.S., Via della Pineta Sacchetti 217, 00168 Rome, Italy; (M.P.); (M.E.O.); (G.C.); (G.M.); (A.M.); (S.B.); (A.U.)
- Dipartimento di Scienze Biotecnologiche di Base, Cliniche Intensivologiche e Perioperatorie, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168 Rome, Italy;
| | - Giulia Canu
- UOC di Chimica Biochimica e Biologia Molecolare Clinica, Fondazione Policlinico Universitario A. Gemelli I.R.C.C.S., Via della Pineta Sacchetti 217, 00168 Rome, Italy; (M.P.); (M.E.O.); (G.C.); (G.M.); (A.M.); (S.B.); (A.U.)
| | - Giacomo Moretti
- UOC di Chimica Biochimica e Biologia Molecolare Clinica, Fondazione Policlinico Universitario A. Gemelli I.R.C.C.S., Via della Pineta Sacchetti 217, 00168 Rome, Italy; (M.P.); (M.E.O.); (G.C.); (G.M.); (A.M.); (S.B.); (A.U.)
| | - Angelo Minucci
- UOC di Chimica Biochimica e Biologia Molecolare Clinica, Fondazione Policlinico Universitario A. Gemelli I.R.C.C.S., Via della Pineta Sacchetti 217, 00168 Rome, Italy; (M.P.); (M.E.O.); (G.C.); (G.M.); (A.M.); (S.B.); (A.U.)
| | - Silvia Baroni
- UOC di Chimica Biochimica e Biologia Molecolare Clinica, Fondazione Policlinico Universitario A. Gemelli I.R.C.C.S., Via della Pineta Sacchetti 217, 00168 Rome, Italy; (M.P.); (M.E.O.); (G.C.); (G.M.); (A.M.); (S.B.); (A.U.)
- Dipartimento di Scienze Biotecnologiche di Base, Cliniche Intensivologiche e Perioperatorie, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168 Rome, Italy;
| | - Alvaro Mordente
- Dipartimento di Scienze Biotecnologiche di Base, Cliniche Intensivologiche e Perioperatorie, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168 Rome, Italy;
- Dipartimento di Scienze di Laboratorio e Infettivologiche, Fondazione Policlinico Universitario A. Gemelli I.R.C.C.S., Via della Pineta Sacchetti 217, 00168 Rome, Italy
| | - Andrea Urbani
- UOC di Chimica Biochimica e Biologia Molecolare Clinica, Fondazione Policlinico Universitario A. Gemelli I.R.C.C.S., Via della Pineta Sacchetti 217, 00168 Rome, Italy; (M.P.); (M.E.O.); (G.C.); (G.M.); (A.M.); (S.B.); (A.U.)
- Dipartimento di Scienze Biotecnologiche di Base, Cliniche Intensivologiche e Perioperatorie, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168 Rome, Italy;
| | - Christel Galvani
- Laboratorio di Scienze Dell’esercizio Fisico e Dello Sport, Dipartimento di Psicologia, Università Cattolica del Sacro Cuore, Viale Suzzani 279, 20162 Milan, Italy
- Correspondence: ; Tel.: +39-02-72348800
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Varillas-Delgado D, Del Coso J, Gutiérrez-Hellín J, Aguilar-Navarro M, Muñoz A, Maestro A, Morencos E. Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing. Eur J Appl Physiol 2022; 122:1811-1830. [PMID: 35428907 PMCID: PMC9012664 DOI: 10.1007/s00421-022-04945-z] [Citation(s) in RCA: 32] [Impact Index Per Article: 10.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/13/2021] [Accepted: 03/29/2022] [Indexed: 12/19/2022]
Abstract
The impact of genetics on physiology and sports performance is one of the most debated research aspects in sports sciences. Nearly 200 genetic polymorphisms have been found to influence sports performance traits, and over 20 polymorphisms may condition the status of the elite athlete. However, with the current evidence, it is certainly too early a stage to determine how to use genotyping as a tool for predicting exercise/sports performance or improving current methods of training. Research on this topic presents methodological limitations such as the lack of measurement of valid exercise performance phenotypes that make the study results difficult to interpret. Additionally, many studies present an insufficient cohort of athletes, or their classification as elite is dubious, which may introduce expectancy effects. Finally, the assessment of a progressively higher number of polymorphisms in the studies and the introduction of new analysis tools, such as the total genotype score (TGS) and genome-wide association studies (GWAS), have produced a considerable advance in the power of the analyses and a change from the study of single variants to determine pathways and systems associated with performance. The purpose of the present study was to comprehensively review evidence on the impact of genetics on endurance- and power-based exercise performance to clearly determine the potential utility of genotyping for detecting sports talent, enhancing training, or preventing exercise-related injuries, and to present an overview of recent research that has attempted to correct the methodological issues found in previous investigations.
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Affiliation(s)
- David Varillas-Delgado
- Faculty of Health Sciences, Universidad Francisco de Vitoria, Pozuelo de Alarcón, 28223, Madrid, Spain.
| | - Juan Del Coso
- Centre for Sport Studies, Rey Juan Carlos University, Fuenlabrada, 28933, Madrid, Spain
| | - Jorge Gutiérrez-Hellín
- Faculty of Health Sciences, Universidad Francisco de Vitoria, Pozuelo de Alarcón, 28223, Madrid, Spain
| | - Millán Aguilar-Navarro
- Faculty of Health Sciences, Universidad Francisco de Vitoria, Pozuelo de Alarcón, 28223, Madrid, Spain
| | - Alejandro Muñoz
- Faculty of Health Sciences, Universidad Francisco de Vitoria, Pozuelo de Alarcón, 28223, Madrid, Spain
| | | | - Esther Morencos
- Faculty of Health Sciences, Universidad Francisco de Vitoria, Pozuelo de Alarcón, 28223, Madrid, Spain
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15
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Pallotti F, Senofonte G, Konstantinidou F, Di Chiano S, Faja F, Rizzo F, Cargnelutti F, Krausz C, Paoli D, Lenzi A, Stuppia L, Gatta V, Lombardo F. Epigenetic Effects of Gender-Affirming Hormone Treatment: A Pilot Study of the ESR2 Promoter’s Methylation in AFAB People. Biomedicines 2022; 10:biomedicines10020459. [PMID: 35203670 PMCID: PMC8962414 DOI: 10.3390/biomedicines10020459] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/15/2022] [Revised: 02/09/2022] [Accepted: 02/14/2022] [Indexed: 11/16/2022] Open
Abstract
Virilization of gender-incongruent subjects to whom were assigned the female gender at birth (AFAB) is achieved through testosterone administration. Inter-individual differences in the timing and acquisition of phenotypic characteristics, even if the same hormone preparations and regimens are used, are frequently observed. Polymorphisms of sex hormone receptors and methylation of their gene promoters, as well of several imprinted genes as H19, may underlie the differential response to treatment. Thus, the aim of this study was to examine the possible relationship between the CpG methylation profile of the estrogen receptor 2 gene (ESR2) and H19 promoters and their influence on phenotype modifications in a cohort of AFAB people at baseline (T0) and after 6 mo (T6) and 12 mo (T12) of testosterone therapy (testosterone enanthate, 250 mg i.m. every 28 d). A total of 13 AFAB subjects (mean age 29.3 ± 12.6) were recruited. The percentage of methylation of the ESR2 promoter significantly increased at T6 (adj. p = 0.001) and T12 (adj. p = 0.05), while no difference was detected for H19 (p = 0.237). Methylation levels were not associated with androgen receptor (AR)/estrogen receptor beta (ERβ) polymorphisms nor hormone levels at baseline and after six months of treatment. On the other hand, total testosterone level and patient age resulted in being significantly associated with ESR2 methylation after twelve months of treatment. Finally, the difference in ESR2 promoter methylation between T6 and baseline was significantly associated with the number of CA repeats of the ERβ receptor, adjusted vs. all considered variables (R2 = 0.62, adj. R2 = 0.35). No associations were found with CAG repeats of the AR, age, and estradiol and testosterone levels. Despite the small sample size, we can hypothesize that treatment with exogenous testosterone can modify the ESR2 methylation pattern. Our data also indicated that epigenetic changes may be regulated, suggesting that the modulation of estrogen signaling is relevant shortly after the beginning of the treatment up to T6, with no further significant modification at T12. Furthermore, estrogen receptor methylation appears to be associated with the age of the subjects and exogenous testosterone administration, representing a marker of androgenic treatment. Nonetheless, it will be necessary to increase the number of subjects to evaluate how epigenetic regulation might play a relevant role in the modulation of phenotypical changes after testosterone treatment.
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Affiliation(s)
- Francesco Pallotti
- Laboratory of Seminology—Sperm Bank “Loredana Gandini”, Department of Experimental Medicine, University of Rome “Sapienza”, 00161 Rome, Italy; (F.P.); (G.S.); (S.D.C.); (F.F.); (F.R.); (F.C.); (D.P.); (A.L.); (F.L.)
| | - Giulia Senofonte
- Laboratory of Seminology—Sperm Bank “Loredana Gandini”, Department of Experimental Medicine, University of Rome “Sapienza”, 00161 Rome, Italy; (F.P.); (G.S.); (S.D.C.); (F.F.); (F.R.); (F.C.); (D.P.); (A.L.); (F.L.)
| | - Fani Konstantinidou
- Department of Psychological Health and Territorial Sciences, School of Medicine and Health Sciences, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy; (F.K.); (L.S.)
- Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy
| | - Silvia Di Chiano
- Laboratory of Seminology—Sperm Bank “Loredana Gandini”, Department of Experimental Medicine, University of Rome “Sapienza”, 00161 Rome, Italy; (F.P.); (G.S.); (S.D.C.); (F.F.); (F.R.); (F.C.); (D.P.); (A.L.); (F.L.)
| | - Fabiana Faja
- Laboratory of Seminology—Sperm Bank “Loredana Gandini”, Department of Experimental Medicine, University of Rome “Sapienza”, 00161 Rome, Italy; (F.P.); (G.S.); (S.D.C.); (F.F.); (F.R.); (F.C.); (D.P.); (A.L.); (F.L.)
| | - Flavio Rizzo
- Laboratory of Seminology—Sperm Bank “Loredana Gandini”, Department of Experimental Medicine, University of Rome “Sapienza”, 00161 Rome, Italy; (F.P.); (G.S.); (S.D.C.); (F.F.); (F.R.); (F.C.); (D.P.); (A.L.); (F.L.)
| | - Francesco Cargnelutti
- Laboratory of Seminology—Sperm Bank “Loredana Gandini”, Department of Experimental Medicine, University of Rome “Sapienza”, 00161 Rome, Italy; (F.P.); (G.S.); (S.D.C.); (F.F.); (F.R.); (F.C.); (D.P.); (A.L.); (F.L.)
| | - Csilla Krausz
- Department of Experimental and Clinical Biomedical Sciences “Mario Serio”, University of Florence, 50139 Florence, Italy;
| | - Donatella Paoli
- Laboratory of Seminology—Sperm Bank “Loredana Gandini”, Department of Experimental Medicine, University of Rome “Sapienza”, 00161 Rome, Italy; (F.P.); (G.S.); (S.D.C.); (F.F.); (F.R.); (F.C.); (D.P.); (A.L.); (F.L.)
| | - Andrea Lenzi
- Laboratory of Seminology—Sperm Bank “Loredana Gandini”, Department of Experimental Medicine, University of Rome “Sapienza”, 00161 Rome, Italy; (F.P.); (G.S.); (S.D.C.); (F.F.); (F.R.); (F.C.); (D.P.); (A.L.); (F.L.)
| | - Liborio Stuppia
- Department of Psychological Health and Territorial Sciences, School of Medicine and Health Sciences, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy; (F.K.); (L.S.)
- Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy
| | - Valentina Gatta
- Department of Psychological Health and Territorial Sciences, School of Medicine and Health Sciences, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy; (F.K.); (L.S.)
- Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy
- Correspondence:
| | - Francesco Lombardo
- Laboratory of Seminology—Sperm Bank “Loredana Gandini”, Department of Experimental Medicine, University of Rome “Sapienza”, 00161 Rome, Italy; (F.P.); (G.S.); (S.D.C.); (F.F.); (F.R.); (F.C.); (D.P.); (A.L.); (F.L.)
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Bizjak DA, Zügel M, Treff G, Winkert K, Jerg A, Hudemann J, Mooren FC, Krüger K, Nieß A, Steinacker JM. Effects of Training Status and Exercise Mode on Global Gene Expression in Skeletal Muscle. Int J Mol Sci 2021; 22:ijms222212578. [PMID: 34830458 PMCID: PMC8674764 DOI: 10.3390/ijms222212578] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/30/2021] [Revised: 11/14/2021] [Accepted: 11/17/2021] [Indexed: 12/29/2022] Open
Abstract
The aim of this study was to investigate differences in skeletal muscle gene expression of highly trained endurance and strength athletes in comparison to untrained individuals at rest and in response to either an acute bout of endurance or strength exercise. Endurance (ET, n = 8, VO2max 67 ± 9 mL/kg/min) and strength athletes (ST, n = 8, 5.8 ± 3.0 training years) as well as untrained controls (E-UT and S-UT, each n = 8) performed an acute endurance or strength exercise test. One day before testing (Pre), 30 min (30'Post) and 3 h (180'Post) afterwards, a skeletal muscle biopsy was obtained from the m. vastus lateralis. Skeletal muscle mRNA was isolated and analyzed by Affymetrix-microarray technology. Pathway analyses were performed to evaluate the effects of training status (trained vs. untrained) and exercise mode-specific (ET vs. ST) transcriptional responses. Differences in global skeletal muscle gene expression between trained and untrained were smaller compared to differences in exercise mode. Maximum differences between ET and ST were found between Pre and 180'Post. Pathway analyses showed increased expression of exercise-related genes, such as nuclear transcription factors (NR4A family), metabolism and vascularization (PGC1-α and VEGF-A), and muscle growth/structure (myostatin, IRS1/2 and HIF1-α. The most upregulated genes in response to acute endurance or strength exercise were the NR4A genes (NR4A1, NR4A2, NR4A3). The mode of acute exercise had a significant effect on transcriptional regulation Pre vs. 180'Post. In contrast, the effect of training status on human skeletal muscle gene expression profiles was negligible compared to strength or endurance specialization. The highest variability in gene expression, especially for the NR4A-family, was observed in trained individuals at 180'Post. Assessment of these receptors might be suitable to obtain a deeper understanding of skeletal muscle adaptive processes to develop optimized training strategies.
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Affiliation(s)
- Daniel A. Bizjak
- Division of Sports and Rehabilitation Medicine, Department of Internal Medicine II, University of Ulm, 89075 Ulm, Germany; (M.Z.); (G.T.); (K.W.); (A.J.); (J.M.S.)
- Correspondence: ; Tel.: +49-73150045368; Fax: +49-73150045301
| | - Martina Zügel
- Division of Sports and Rehabilitation Medicine, Department of Internal Medicine II, University of Ulm, 89075 Ulm, Germany; (M.Z.); (G.T.); (K.W.); (A.J.); (J.M.S.)
| | - Gunnar Treff
- Division of Sports and Rehabilitation Medicine, Department of Internal Medicine II, University of Ulm, 89075 Ulm, Germany; (M.Z.); (G.T.); (K.W.); (A.J.); (J.M.S.)
| | - Kay Winkert
- Division of Sports and Rehabilitation Medicine, Department of Internal Medicine II, University of Ulm, 89075 Ulm, Germany; (M.Z.); (G.T.); (K.W.); (A.J.); (J.M.S.)
| | - Achim Jerg
- Division of Sports and Rehabilitation Medicine, Department of Internal Medicine II, University of Ulm, 89075 Ulm, Germany; (M.Z.); (G.T.); (K.W.); (A.J.); (J.M.S.)
| | - Jens Hudemann
- Department of Sports Medicine, University Hospital Tübingen, 72074 Tübingen, Germany; (J.H.); (A.N.)
| | - Frank C. Mooren
- Department of Medicine, Faculty of Health, University of Witten/Herdecke, 58455 Witten, Germany;
| | - Karsten Krüger
- Department of Exercise Physiology and Sports Therapy, University of Gießen, 35394 Gießen, Germany;
| | - Andreas Nieß
- Department of Sports Medicine, University Hospital Tübingen, 72074 Tübingen, Germany; (J.H.); (A.N.)
| | - Jürgen M. Steinacker
- Division of Sports and Rehabilitation Medicine, Department of Internal Medicine II, University of Ulm, 89075 Ulm, Germany; (M.Z.); (G.T.); (K.W.); (A.J.); (J.M.S.)
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17
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Molecular Portrait of an Athlete. Diagnostics (Basel) 2021; 11:diagnostics11061095. [PMID: 34203902 PMCID: PMC8232626 DOI: 10.3390/diagnostics11061095] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/02/2021] [Revised: 06/01/2021] [Accepted: 06/11/2021] [Indexed: 01/15/2023] Open
Abstract
Sequencing of the human genome and further developments in "omics" technologies have opened up new possibilities in the study of molecular mechanisms underlying athletic performance. It is expected that molecular markers associated with the development and manifestation of physical qualities (speed, strength, endurance, agility, and flexibility) can be successfully used in the selection systems in sports. This includes the choice of sports specialization, optimization of the training process, and assessment of the current functional state of an athlete (such as overtraining). This review summarizes and analyzes the genomic, proteomic, and metabolomic studies conducted in the field of sports medicine.
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Ducret V, Richards AJ, Videlier M, Scalvenzi T, Moore KA, Paszkiewicz K, Bonneaud C, Pollet N, Herrel A. Transcriptomic analysis of the trade-off between endurance and burst-performance in the frog Xenopus allofraseri. BMC Genomics 2021; 22:204. [PMID: 33757428 PMCID: PMC7986297 DOI: 10.1186/s12864-021-07517-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/17/2020] [Accepted: 03/08/2021] [Indexed: 11/10/2022] Open
Abstract
BACKGROUND Variation in locomotor capacity among animals often reflects adaptations to different environments. Despite evidence that physical performance is heritable, the molecular basis of locomotor performance and performance trade-offs remains poorly understood. In this study we identify the genes, signaling pathways, and regulatory processes possibly responsible for the trade-off between burst performance and endurance observed in Xenopus allofraseri, using a transcriptomic approach. RESULTS We obtained a total of about 121 million paired-end reads from Illumina RNA sequencing and analyzed 218,541 transcripts obtained from a de novo assembly. We identified 109 transcripts with a significant differential expression between endurant and burst performant individuals (FDR ≤ 0.05 and logFC ≥2), and blast searches resulted in 103 protein-coding genes. We found major differences between endurant and burst-performant individuals in the expression of genes involved in the polymerization and ATPase activity of actin filaments, cellular trafficking, proteoglycans and extracellular proteins secreted, lipid metabolism, mitochondrial activity and regulators of signaling cascades. Remarkably, we revealed transcript isoforms of key genes with functions in metabolism, apoptosis, nuclear export and as a transcriptional corepressor, expressed in either burst-performant or endurant individuals. Lastly, we find two up-regulated transcripts in burst-performant individuals that correspond to the expression of myosin-binding protein C fast-type (mybpc2). This suggests the presence of mybpc2 homoeologs and may have been favored by selection to permit fast and powerful locomotion. CONCLUSION These results suggest that the differential expression of genes belonging to the pathways of calcium signaling, endoplasmic reticulum stress responses and striated muscle contraction, in addition to the use of alternative splicing and effectors of cellular activity underlie locomotor performance trade-offs. Ultimately, our transcriptomic analysis offers new perspectives for future analyses of the role of single nucleotide variants, homoeology and alternative splicing in the evolution of locomotor performance trade-offs.
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Affiliation(s)
- Valérie Ducret
- UMR 7179 MECADEV, C.N.R.S/M.N.H.N., Département Adaptations du Vivant, 55 Rue Buffon, 75005, Paris, France.
| | - Adam J Richards
- Station d'Ecologie Expérimentale du CNRS, USR 2936, 09200, Moulis, France
| | - Mathieu Videlier
- Functional Ecology Lab, Department of Biology, University of Ottawa, 30 Marie Curie, Ottawa, ON, K1N 6N5, Canada
| | - Thibault Scalvenzi
- Evolution, Génomes, Comportement & Ecologie, Université Paris-Saclay, CNRS, IRD, 91198, Gif-sur-Yvette, France
| | - Karen A Moore
- Exeter Sequencing Service, College of Life and Environmental Sciences, University of Exeter, Exeter, EX4 4QD, UK
| | - Konrad Paszkiewicz
- Exeter Sequencing Service, College of Life and Environmental Sciences, University of Exeter, Exeter, EX4 4QD, UK
| | - Camille Bonneaud
- Station d'Ecologie Expérimentale du CNRS, USR 2936, 09200, Moulis, France
- Centre for Ecology & Conservation, College of Life and Environmental Sciences, University of Exeter, Penryn, Cornwall, UK
| | - Nicolas Pollet
- Evolution, Génomes, Comportement & Ecologie, Université Paris-Saclay, CNRS, IRD, 91198, Gif-sur-Yvette, France
| | - Anthony Herrel
- Station d'Ecologie Expérimentale du CNRS, USR 2936, 09200, Moulis, France
- Evolutionary Morphology of Vertebrates, Ghent University, B-9000, Ghent, Belgium
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Jukic I, Calleja-González J, Cuzzolin F, Sampaio J, Cos F, Milanovic L, Krakan I, Ostojic S, Olmo J, Requena B, Njaradi N, Sassi R, Rovira M, Kocaoglu B. The 360° Performance System in Team Sports: Is It Time to Design a "Personalized Jacket" for Team Sports Players? Sports (Basel) 2021; 9:sports9030040. [PMID: 33802654 PMCID: PMC8002432 DOI: 10.3390/sports9030040] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/01/2021] [Revised: 03/11/2021] [Accepted: 03/12/2021] [Indexed: 11/21/2022] Open
Abstract
Elite performance in team sports attracts the attention of the general public. In particular, the best players became incredibly skilled and physically powerful, which is a fact that potentiates the delivery of a product that is considered attractive, exciting, and competitive. Not surprisingly, this is a very valuable product from an economic and social standpoint; thus, all sports professionals are extremely interested in developing new procedures to improve their sports performance. Furthermore, the great interests of the various stakeholders (owners, chief executive officers (CEOs), agents, fans, media, coaches, players, families, and friends) are one of the main reasons for this development under the sports science umbrella and the accompanying sports industry. All their personal performances should be coordinated and put into practice by the sports team. In this scientific and applied study, we primarily dealt with the individual treatment of players in order to improve their personal performance and, consequently, the team’s sporting performance.
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Affiliation(s)
- Igor Jukic
- Faculty of Kinesiology, University of Zagreb, 10110 Zagreb, Croatia; (I.J.); (L.M.); (I.K.)
- Biotrening Ltd., 10000 Zagreb, Croatia
| | - Julio Calleja-González
- Faculty of Kinesiology, University of Zagreb, 10110 Zagreb, Croatia; (I.J.); (L.M.); (I.K.)
- Faculty of Education and Sport, University of Basque Country (UPV/EHU), 01007 Vitoria-Gasteiz, Spain
- Correspondence:
| | | | - Jaime Sampaio
- Research Centre in Sports Sciences, Health Sciences and Human Development, CIDESD, 5001-801 Vila Real, Portugal;
| | - Francesc Cos
- National Institute of Physical Education (INEFC), University of Barcelona, 08038 Barcelona, Spain;
- Manchester City Football Club, Manchester M11 4TS, UK
| | - Luka Milanovic
- Faculty of Kinesiology, University of Zagreb, 10110 Zagreb, Croatia; (I.J.); (L.M.); (I.K.)
- Biotrening Ltd., 10000 Zagreb, Croatia
| | - Ivan Krakan
- Faculty of Kinesiology, University of Zagreb, 10110 Zagreb, Croatia; (I.J.); (L.M.); (I.K.)
- Biotrening Ltd., 10000 Zagreb, Croatia
| | - Sergej Ostojic
- Faculty of Physical Education and Sport, University of Novi Sad, 21000 Novi Sad, Serbia;
- Center for Health, Exercise and Sport Sciences, 11000 Belgrade, Serbia
| | - Jesús Olmo
- Football Science Institute, 18016 Granada, Spain; (J.O.); (B.R.)
| | - Bernardo Requena
- Football Science Institute, 18016 Granada, Spain; (J.O.); (B.R.)
| | - Nenad Njaradi
- Football Club Deportivo Alavés, 01007 Vitoria-Gasteiz, Spain;
| | | | - Mar Rovira
- Tecnocampus, Universitat Pompeu Fabra, Grup de recerca en Activitat Física, Rendiment i Salut (AFIRS), Av. d’Ernest Lluch, 32, 08302 Mataró, Spain;
| | - Baris Kocaoglu
- Faculty of Medicine, Acibadem University, Küçükbakkalköy, Kayışdağı Cd., 34755 Ataşehir/İstanbul, Turkey;
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21
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Sorrenti V, Fortinguerra S, Caudullo G, Buriani A. Deciphering the Role of Polyphenols in Sports Performance: From Nutritional Genomics to the Gut Microbiota toward Phytonutritional Epigenomics. Nutrients 2020; 12:nu12051265. [PMID: 32365576 PMCID: PMC7281972 DOI: 10.3390/nu12051265] [Citation(s) in RCA: 21] [Impact Index Per Article: 4.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/16/2020] [Revised: 04/24/2020] [Accepted: 04/27/2020] [Indexed: 02/07/2023] Open
Abstract
The individual response to nutrients and non-nutrient molecules can be largely affected by three important biological layers. The gut microbiome can alter the bioavailability of nutrients and other substances, the genome can influence molecule kinetics and dynamics, while the epigenome can modulate or amplify the properties of the genome. Today the use of omic techniques and bioinformatics, allow the construction of individual multilayer networks and thus the identification of personalized strategies that have recently been considered in all medical fields, including sports medicine. The composition of each athlete’s microbiome influences sports performance both directly by acting on energy metabolism and indirectly through the modulation of nutrient or non-nutrient molecule availability that ultimately affects the individual epigenome and the genome. Among non-nutrient molecules polyphenols can potentiate physical performances through different epigenetic mechanisms. Polyphenols interact with the gut microbiota, undergoing extensive metabolism to produce bioactive molecules, which act on transcription factors involved in mitochondrial biogenesis, antioxidant systems, glucose and lipid homeostasis, and DNA repair. This review focuses on polyphenols effects in sports performance considering the individual microbiota, epigenomic asset, and the genomic characteristics of athletes to understand how their supplementation could potentially help to modulate muscle inflammation and improve recovery.
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Affiliation(s)
- Vincenzo Sorrenti
- Department of Pharmaceutical & Pharmacological Sciences, University of Padova, 35131 Padova, Italy
- Bendessere™ Study Center, Solgar Italia Multinutrient S.p.A., 35131 Padova, Italy; (S.F.); (G.C.); (A.B.)
- Maria Paola Belloni Center for Personalized Medicine, Data Medica Group (Synlab Limited), 35100 Padova, Italy
- Correspondence:
| | - Stefano Fortinguerra
- Bendessere™ Study Center, Solgar Italia Multinutrient S.p.A., 35131 Padova, Italy; (S.F.); (G.C.); (A.B.)
- Maria Paola Belloni Center for Personalized Medicine, Data Medica Group (Synlab Limited), 35100 Padova, Italy
| | - Giada Caudullo
- Bendessere™ Study Center, Solgar Italia Multinutrient S.p.A., 35131 Padova, Italy; (S.F.); (G.C.); (A.B.)
| | - Alessandro Buriani
- Bendessere™ Study Center, Solgar Italia Multinutrient S.p.A., 35131 Padova, Italy; (S.F.); (G.C.); (A.B.)
- Maria Paola Belloni Center for Personalized Medicine, Data Medica Group (Synlab Limited), 35100 Padova, Italy
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22
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Widmann M, Nieß AM, Munz B. Physical Exercise and Epigenetic Modifications in Skeletal Muscle. Sports Med 2020; 49:509-523. [PMID: 30778851 DOI: 10.1007/s40279-019-01070-4] [Citation(s) in RCA: 93] [Impact Index Per Article: 18.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/16/2022]
Abstract
Physical activity and sports play major roles in the overall health status of humans. It is well known that regular exercise helps to lower the risk for a broad variety of health problems, such as cardiovascular disease, type 2 diabetes, and cancer. Being physically active induces a wide variety of molecular adaptations, for example fiber type switches or other metabolic alterations, in skeletal muscle tissue. These adaptations are based on exercise-induced changes to the skeletal muscle transcriptome. Understanding their nature is crucial to improve the development of exercise-based therapeutic strategies. Recent research indicates that specifically epigenetic mechanisms, i.e., pathways that induce changes in gene expression patterns without altering the DNA base sequence, might play a major role in controlling skeletal muscle transcriptional patterns. Epigenetic mechanisms include DNA and histone modifications, as well as expression of specific microRNAs. They can be modulated by environmental factors or external stimuli, such as exercise, and eventually induce specific and fine-tuned changes to the transcriptional response. In this review, we highlight current knowledge on epigenetic changes induced in exercising skeletal muscle, their target genes, and resulting phenotypic changes. In addition, we raise the question of whether epigenetic modifications might serve as markers for the design and management of optimized and individualized training protocols, as prognostic tools to predict training adaptation, or even as targets for the design of "exercise mimics".
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Affiliation(s)
- Manuel Widmann
- Department of Sports Medicine, University Medicine Tübingen, Hoppe-Seyler-Str. 6, D-72076, Tübingen, Germany
| | - Andreas M Nieß
- Department of Sports Medicine, University Medicine Tübingen, Hoppe-Seyler-Str. 6, D-72076, Tübingen, Germany
| | - Barbara Munz
- Department of Sports Medicine, University Medicine Tübingen, Hoppe-Seyler-Str. 6, D-72076, Tübingen, Germany.
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23
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Pickering C, Kiely J, Grgic J, Lucia A, Del Coso J. Can Genetic Testing Identify Talent for Sport? Genes (Basel) 2019; 10:E972. [PMID: 31779250 PMCID: PMC6969917 DOI: 10.3390/genes10120972] [Citation(s) in RCA: 36] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/04/2019] [Revised: 11/13/2019] [Accepted: 11/23/2019] [Indexed: 11/21/2022] Open
Abstract
Elite athlete status is a partially heritable trait, as are many of the underpinning physiological, anthropometrical, and psychological traits that contribute to elite performance. In recent years, our understanding of the specific genetic variants that contribute to these traits has grown, such that there is considerable interest in attempting to utilise genetic information as a tool to predict future elite athlete status. In this review, we explore the extent of the genetic influence on the making of a sporting champion and we describe issues which, at present, hamper the utility of genetic testing in identifying future elite performers. We build on this by exploring what further knowledge is required to enhance this process, including a reflection on the potential learnings from the use of genetics as a disease prediction tool. Finally, we discuss ways in which genetic information may hold utility within elite sport in the future, including guiding nutritional and training recommendations, and assisting in the prevention of injury. Whilst genetic testing has the potential to assist in the identification of future talented performers, genetic tests should be combined with other tools to obtain an accurate identification of those athletes predisposed to succeed in sport. The use of total genotype scores, composed of a high number of performance-enhancing polymorphisms, will likely be one of the best strategies in the utilisation of genetic information to identify talent in sport.
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Affiliation(s)
- Craig Pickering
- Institute of Coaching and Performance, School of Sport and Wellbeing, University of Central Lancashire, Preston PR1 2HE, UK; (C.P.); (J.K.)
| | - John Kiely
- Institute of Coaching and Performance, School of Sport and Wellbeing, University of Central Lancashire, Preston PR1 2HE, UK; (C.P.); (J.K.)
| | - Jozo Grgic
- Institute for Health and Sport (IHES), Victoria University, Melbourne 3011, Australia;
| | - Alejandro Lucia
- Faculty of Sport Sciences, Universidad Europea de Madrid, 28670 Villaviciosa de Odón, Spain;
- Research Institute i+12, and Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable, 28041 Madrid, Spain
| | - Juan Del Coso
- Centre for Sport Studies, Rey Juan Carlos University, 28943 Fuenlabrada, Spain
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24
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Polli A, Ickmans K, Godderis L, Nijs J. When Environment Meets Genetics: A Clinical Review of the Epigenetics of Pain, Psychological Factors, and Physical Activity. Arch Phys Med Rehabil 2019; 100:1153-1161. [DOI: 10.1016/j.apmr.2018.09.118] [Citation(s) in RCA: 18] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/17/2018] [Revised: 09/14/2018] [Accepted: 09/18/2018] [Indexed: 02/06/2023]
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25
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The Development of a Personalised Training Framework: Implementation of Emerging Technologies for Performance. J Funct Morphol Kinesiol 2019; 4:jfmk4020025. [PMID: 33467340 PMCID: PMC7739422 DOI: 10.3390/jfmk4020025] [Citation(s) in RCA: 12] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/18/2019] [Revised: 05/13/2019] [Accepted: 05/15/2019] [Indexed: 02/06/2023] Open
Abstract
Over the last decade, there has been considerable interest in the individualisation of athlete training, including the use of genetic information, alongside more advanced data capture and analysis techniques. Here, we explore the evidence for, and practical use of, a number of these emerging technologies, including the measurement and quantification of epigenetic changes, microbiome analysis and the use of cell-free DNA, along with data mining and machine learning. In doing so, we develop a theoretical model for the use of these technologies in an elite sport setting, allowing the coach to better answer six key questions: (1) To what training will my athlete best respond? (2) How well is my athlete adapting to training? (3) When should I change the training stimulus (i.e., has the athlete reached their adaptive ceiling for this training modality)? (4) How long will it take for a certain adaptation to occur? (5) How well is my athlete tolerating the current training load? (6) What load can my athlete handle today? Special consideration is given to whether such an individualised training framework will outperform current methods as well as the challenges in implementing this approach.
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26
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Olmeda-Gómez C, Romá-Mateo C, Ovalle-Perandones MA. Overview of trends in global epigenetic research (2009–2017). Scientometrics 2019. [DOI: 10.1007/s11192-019-03095-y] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/25/2022]
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Vargas-Mendoza N, Fregoso-Aguilar T, Madrigal-Santillán E, Morales-González Á, Morales-González JA. Ethical Concerns in Sport: When the Will to Win Exceed the Spirit of Sport. Behav Sci (Basel) 2018; 8:78. [PMID: 30177618 PMCID: PMC6162520 DOI: 10.3390/bs8090078] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/18/2018] [Revised: 08/11/2018] [Accepted: 08/28/2018] [Indexed: 02/07/2023] Open
Abstract
Background: The need to advance and achieve success is deeply ingrained in human evolution. As a species, humans developed instincts that allowed them to survive and transmit their genes along generations. The will to win is an instinct that has been maintained in the species for millions of years. Sport is an activity as old as humans themselves and is subject to rules; Objective: The proposal of this work is to explore some of the most recurrent practices to achieve the athletes' goals, and the origins and historical use of methods or substances to improve performance and its regulation, as well as to review the impact of new technologies on achieving better results and to make a proposal of what actions should be takenin order to prevent bad practices; Methods: A narrative literature review of ethical sports issues and decision-making was performed in the English language; Results: Practically all behavior with regards to the theme of sports is regulated by ethical codes that must be followed by sportspersons, as well as by everyone involved in the athlete's healthcare and in the athlete's administrative, marketing, and business aspects. Notwithstanding this, winning and reaping glory implies a reward far greater than fame and fortune, which can lead to poor ethical practices in athletes, as well as in interested parties who detract from the intrinsic value of the spirit of sports. The will to win could exceed the limits of what is permitted in fair-play, like the use of prohibited methods or substances; Conclusions: In this work, we review some of the bioethical aspects ofsports. Additionally, recommendations are offered for good practices and to prevent falling into poor ethical behavior.
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Affiliation(s)
- Nancy Vargas-Mendoza
- Área Académica de Nutrición, ICSa, Universidad Autónoma del Estado de Hidalgo, Pachuca de Soto CP42000, Mexico.
| | - Tomás Fregoso-Aguilar
- Depto. de Fisiología, Laboratorio de Hormonas y Conducta, ENCB Campus Zacatenco, Instituto Politécnico Nacional, Ciudad de Mexico 07700, Mexico.
| | - Eduardo Madrigal-Santillán
- Laboratorio de Medicina de Conservación, Escuela Superior de Medicina, Instituto Politécnico Nacional, Plan de San Luis y Díaz Mirón, Ciudad de Mexico CP 11340, Mexico.
| | - Ángel Morales-González
- Escuela Superior de Cómputo, Instituto Politécnico Nacional, Av. Juan de Dios Bátiz s/n esquina Miguel Othón de Mendizabal, Unidad Profesional Adolfo López Mateos, Ciudad de Mexico CP 07738, Mexico.
| | - José A Morales-González
- Laboratorio de Medicina de Conservación, Escuela Superior de Medicina, Instituto Politécnico Nacional, Plan de San Luis y Díaz Mirón, Ciudad de Mexico CP 11340, Mexico.
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Calleja-González J, Mielgo-Ayuso J, Sampaio J, Delextrat A, Ostojic SM, Marques-Jiménez D, Arratibel I, Sánchez-Ureña B, Dupont G, Schelling X, Terrados N. Brief ideas about evidence-based recovery in team sports. J Exerc Rehabil 2018; 14:545-550. [PMID: 30276172 PMCID: PMC6165975 DOI: 10.12965/jer.1836244.122] [Citation(s) in RCA: 29] [Impact Index Per Article: 4.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/02/2018] [Accepted: 06/25/2018] [Indexed: 01/08/2023] Open
Abstract
Performance in team sports is the expression of complex, dynamic, interactive, and multidimensional processes. It is now well-established that optimum recovery after practice or match is a key factor of team sport performance. During season and tournaments, improving recovery could offer an advantage for following performance. As a consequence of the professionalization of different roles in staffs, new particular roles have been developed within the team sports physician core in order to improve recovery protocols. Presently, scientific literature presents a big amount of methods used to enhance recovery based on the type of practice, time between session or competitions and equipment and/or staff accessible. These practices, usually used by teams are related to: ergonutritional, water therapy, massages techniques, stretching compression garments, sleep strategies and psychological implements. Besides, travel fatigue has been recognized by athletes and coaches as a challenging problem that could benefit from practical solutions. Nowadays, players have to play a lot of matches without enough time to recover among them, therefore the use of well-managed recovery can lead to a competitive advantage. Although the main purpose of applied sport sciences investigation is to categorize the protocols as well as providing approaches for individual recovery, the stages to recognize the most appropriate recovery plans in the field of team sports come from the analysis of the individual parameters.
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Affiliation(s)
- Julio Calleja-González
- Department of Physical Activity and Sports, University of the Basque Country, Vitoria, Spain
| | | | - Jaime Sampaio
- Research Center in Sports Sciences, Health Sciences and Human Development (CIDESD), CreativeLab Research Community, Vila Real, Portugal
| | - Anne Delextrat
- Sport and Health Sciences Department, Oxford Brookes University, Oxford, UK
| | | | - Diego Marques-Jiménez
- Department of Physical Activity and Sports, University of the Basque Country, Vitoria, Spain
| | - Iñaki Arratibel
- Department of Physical Activity and Sports, University of the Basque Country, Vitoria, Spain
| | - Braulio Sánchez-Ureña
- Human Movement and Quality Life School, Universidad Nacional de Costa Rica, Heredia, Costa Rica
| | - Gregory Dupont
- Université de Lille, EA 7369 - URePSSS - Unité de Recherche Pluridisciplinaires Sport Santé Société, Research Department, Lille Olympique Sporting Club (LOSC), Lille, France
| | - Xavi Schelling
- Complex Systems in Sport Research Group SGR, National Institute of Physical Education of Catalonia (INEFC), University of Lleida, Lleida, Spain
| | - Nicolás Terrados
- Department of Functional Biology, University of Oviedo, Oviedo, Spain
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29
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Boyne DJ, O'Sullivan DE, Olij BF, King WD, Friedenreich CM, Brenner DR. Physical Activity, Global DNA Methylation, and Breast Cancer Risk: A Systematic Literature Review and Meta-analysis. Cancer Epidemiol Biomarkers Prev 2018; 27:1320-1331. [PMID: 29991518 DOI: 10.1158/1055-9965.epi-18-0175] [Citation(s) in RCA: 23] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/18/2018] [Revised: 04/16/2018] [Accepted: 07/04/2018] [Indexed: 11/16/2022] Open
Abstract
The extent to which physical activity reduces breast cancer risk through changes in global DNA methylation is unknown. We systematically identified studies that investigated the association between: (i) physical activity and global DNA methylation; or (ii) global DNA methylation and breast cancer risk. Associations were quantified using random-effects models. Heterogeneity was investigated through subgroup analyses and the Q-test and I 2 statistics. Twenty-four studies were reviewed. We observed a trend between higher levels of physical activity and higher levels of global DNA methylation [pooled standardized mean difference = 0.19; 95% confidence interval (CI), -0.03-0.40; P = 0.09] which, in turn, had a suggestive association with a reduced breast cancer risk (pooled relative risk = 0.70; 95% CI, 0.49-1.02; P = 0.06). In subgroup analyses, a positive association between physical activity and global DNA methylation was observed among studies assessing physical activity over long periods of time (P = 0.02). Similarly, the association between global DNA methylation and breast cancer was statistically significant for prospective cohort studies (P = 0.007). Despite the heterogeneous evidence base, the literature suggests that physical activity reduces the risk of breast cancer through increased global DNA methylation. This study is the first to systematically overview the complete biologic pathway between physical activity, global DNA methylation, and breast cancer. Cancer Epidemiol Biomarkers Prev; 27(11); 1320-31. ©2018 AACR.
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Affiliation(s)
- Devon J Boyne
- Department of Cancer Epidemiology and Prevention Research, CancerControl Alberta, Alberta Health Services, Calgary, Alberta, Canada.,Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
| | - Dylan E O'Sullivan
- Department of Public Health Sciences, Queen's University, Kingston, Ontario, Canada
| | - Branko F Olij
- Department of Cancer Epidemiology and Prevention Research, CancerControl Alberta, Alberta Health Services, Calgary, Alberta, Canada.,Department of Public Health, Erasmus MC-University Medical Center Rotterdam, the Netherlands
| | - Will D King
- Department of Public Health Sciences, Queen's University, Kingston, Ontario, Canada
| | - Christine M Friedenreich
- Department of Cancer Epidemiology and Prevention Research, CancerControl Alberta, Alberta Health Services, Calgary, Alberta, Canada.,Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.,Department of Oncology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
| | - Darren R Brenner
- Department of Cancer Epidemiology and Prevention Research, CancerControl Alberta, Alberta Health Services, Calgary, Alberta, Canada. .,Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.,Department of Oncology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
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30
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Pickering C, Kiely J. Understanding Personalized Training Responses: Can Genetic Assessment Help? ACTA ACUST UNITED AC 2017. [DOI: 10.2174/1875399x01710010191] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022]
Abstract
Background:Traditional exercise prescription is based on the assumption that exercise adaptation is predictable and standardised across individuals. However, evidence has emerged in the past two decades demonstrating that large inter-individual variation exists regarding the magnitude and direction of adaption following exercise.Objective:The aim of this paper was to discuss the key factors influencing this personalized response to exercise in a narrative review format.Findings:Genetic variation contributes significantly to the personalized training response, with specific polymorphisms associated with differences in exercise adaptation. These polymorphisms exist in a number of pathways controlling exercise adaptation. Environmental factors such as nutrition, psycho-emotional response, individual history and training programme design also modify the inter-individual adaptation following training. Within the emerging field of epigenetics, DNA methylation, histone modifications and non-coding RNA allow environmental and lifestyle factors to impact genetic expression. These epigenetic mechanisms are themselves modified by genetic and non-genetic factors, illustrating the complex interplay between variables in determining the adaptive response. Given that genetic factors are such a fundamental modulator of the inter-individual response to exercise, genetic testing may provide a useful and affordable addition to those looking to maximise exercise adaption, including elite athletes. However, there are ethical issues regarding the use of genetic tests, and further work is needed to provide evidence based guidelines for their use.Conclusion:There is considerable inter-individual variation in the adaptive response to exercise. Genetic assessments may provide an additional layer of information allowing personalization of training programmes to an individual’s unique biology.
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Georgiades E, Klissouras V, Baulch J, Wang G, Pitsiladis Y. Why nature prevails over nurture in the making of the elite athlete. BMC Genomics 2017; 18:835. [PMID: 29143595 PMCID: PMC5688461 DOI: 10.1186/s12864-017-4190-8] [Citation(s) in RCA: 29] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/11/2023] Open
Abstract
While the influence of nature (genes) and nurture (environment) on elite sporting performance remains difficult to precisely determine, the dismissal of either as a contributing factor to performance is unwarranted. It is accepted that a complex interaction of a combination of innumerable factors may mold a talented athlete into a champion. The prevailing view today is that understanding elite human performance will require the deciphering of two major sources of individual differences, genes and the environment. It is widely accepted that superior performers are endowed with a high genetic potential actualised through hard and prodigious effort. Heritability studies using the twin model have provided the basis to disentangle genetic and environmental factors that contribute to complex human traits and have paved the way to the detection of specific genes for elite sport performance. Yet, the heritability for most phenotypes essential to elite human performance is above 50% but below 100%, meaning that the environment is also important. Furthermore, individual differences can potentially also be explained not only by the impact of DNA sequence variation on biology and behaviour, but also by the effects of epigenetic changes which affect phenotype by modifying gene expression. Despite this complexity, the overwhelming and accumulating evidence, amounted through experimental research spanning almost two centuries, tips the balance in favour of nature in the “nature” and “nurture” debate. In other words, truly elite-level athletes are built – but only from those born with innate ability.
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Affiliation(s)
| | - Vassilis Klissouras
- Department of Sports Medicine and Biology of Physical Activity, National and Kapodistrian University of Athens, Greece University of Athens, Athens, Greece
| | | | - Guan Wang
- Centre of Sports Medicine for Anti-Doping Research, University of Brighton, 30 Carlisle Road, Eastbourne, BN20 7SN, UK
| | - Yannis Pitsiladis
- Centre of Sports Medicine for Anti-Doping Research, University of Brighton, 30 Carlisle Road, Eastbourne, BN20 7SN, UK. .,Department of Movement, Human and Health Sciences, University of Rome "Foro Italico", Rome, Italy.
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Abstract
The relationships between sport and sexuality in males are of great social and clinical interest, because of sports and motor activities that highly promote social and sexual relationships. Even if few literature exist, two main questions should be taken into account: whether and how physical exercise and sport positively or negatively influence sexual health and behavior and/or whether and how sexual behavior may affect a sub-sequent sport performance. Physical exercise and sport per se can influence, positively or negatively, the hypothalamic-pituitary-testicular axis function and, consequently, the individual's reproductive and/or sexual health. This depends on individual factors such as genetic and epigenetic ones and on different variables involved in the practice of sport activities (type of sport, intensity and duration of training, doping and drug use and abuse, nutrition, supplements, psychological stress, allostatic load, etc.). If well conducted, motor and sport activities could have beneficial effects on sexual health in males. Among different lifestyle changes, influencing sexual health, regular physical activity is fundamental to antagonize the onset of erectile dysfunction (ED). However, competitive sport can lead both reproductive and/or sexual tract damages and dysfunctions, transient (genital pain, hypoesthesia of the genitalia, hypogonadism, DE, altered sexual drive, etc.) or permanent (hypogonadism, DE, etc.), by acting directly (traumas of the external genitalia, saddle-related disorders in cyclists, etc.) or indirectly (exercise-related hypogonadism, drug abuse, doping, stress, etc.). Sexual activities shortly performed before a sport competition could differently influence sport performance. Due to the few existing data, it is advisable to avoid an absolute pre-competition sexual abstinence.
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Affiliation(s)
- P Sgrò
- Unit of Endocrinology, Section of Health Sciences, Department of Movement, Human and Health Sciences, University of Rome "Foro Italico", Rome, Italy
| | - L Di Luigi
- Unit of Endocrinology, Section of Health Sciences, Department of Movement, Human and Health Sciences, University of Rome "Foro Italico", Rome, Italy.
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Wilson RA, Deasy W, Hayes A, Cooke MB. High fat diet and associated changes in the expression of micro-RNAs in tissue: Lessons learned from animal studies. Mol Nutr Food Res 2017; 61. [PMID: 28233461 DOI: 10.1002/mnfr.201600943] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/25/2016] [Revised: 01/15/2017] [Accepted: 02/13/2017] [Indexed: 12/13/2022]
Abstract
Environment and genetic factors play an important role in the development of obesity, and diet is one of the main contributing factors to this disease. High fat intake is associated with body weight gain, leading to obesity and other metabolic diseases. MicroRNAs (miRNAs) are a group of small, noncoding RNAs that are important regulators of gene expression at posttranscriptional level. Studies have shown that high fat intake, independent of body weight status, can significantly impact both negatively and positively the expression of miRNAs and thus the biological function of tissues such as adipose, skeletal, and cardiac muscle, liver, neuronal, and endothelial. This review will summarize the effects of high calorie diet in the form of high fat intake on miRNA expression in various tissues of animal models and of high fat fed offspring. We will also briefly review the impact of different dietary lipids on miRNA expression. Given changes in miRNA expression have been associated with the development of many diseases including obesity, understanding their biological role could have important clinical implications and offer tangible therapeutic targets for the prevention, management, and/or treatment of obesity and other lifestyle-related disorders.
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Affiliation(s)
- Robin A Wilson
- College of Health and Biomedicine, Victoria University, Melbourne, VIC, Australia.,Australian Institute for Musculoskeletal Science (AIMSS), Western Health, Melbourne, VIC, Australia
| | - William Deasy
- College of Health and Biomedicine, Victoria University, Melbourne, VIC, Australia.,Australian Institute for Musculoskeletal Science (AIMSS), Western Health, Melbourne, VIC, Australia
| | - Alan Hayes
- College of Health and Biomedicine, Victoria University, Melbourne, VIC, Australia.,Australian Institute for Musculoskeletal Science (AIMSS), Western Health, Melbourne, VIC, Australia
| | - Matthew B Cooke
- College of Health and Biomedicine, Victoria University, Melbourne, VIC, Australia.,Australian Institute for Musculoskeletal Science (AIMSS), Western Health, Melbourne, VIC, Australia
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34
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Poortmans JR, Carpentier A. Protein metabolism and physical training: any need for amino acid supplementation? ACTA ACUST UNITED AC 2016. [DOI: 10.1186/s41110-016-0022-x] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
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35
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Cięszczyk P, Zarębska A, Jastrzębski Z, Sawczyn M, Kozakiewicz-Drobnik I, Leońska-Duniec A, Kaczmarczyk M, Maciejewska-Skrendo A, Żmijewski P, Trybek G, Smółka W, Pilch J, Leźnicka K, Lulińska-Kuklik E, Sawczuk M, Massidda M. Does the MTHFR A1298C Polymorphism Modulate the Cardiorespiratory Response to Training? J Hum Kinet 2016; 54:43-53. [PMID: 28031756 PMCID: PMC5187978 DOI: 10.1515/hukin-2016-0055] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022] Open
Abstract
The 5,10-methylenetetrahydrofolate reductase gene (MTHFR) A1298C polymorphic variant is a candidate to explain the individual differences in trainability and response to exercise training. Therefore, the aim of the study was to verify whether the A1298C polymorphism influenced the aerobic and anaerobic performance as well as body and mass composition in young Polish women following low-high impact aerobic exercise training. Two hundred and one women aged 21 ± 1 years (range 19–24) were included in the study. All of them completed a 12-week exercise training program and were measured for selected somatic features, aerobic capacity and cardiorespiratory fitness indices as well as peak anaerobic power and anaerobic capacity, before and after the intervention. A mixed 2 x 2 ANOVA for 20 dependent variables grouped in three categories was conducted. No significant interaction of the genotype with training for body mass and body composition variables was observed. Although, there were three significant genotype x training interactions for maximal oxygen uptake variables, regardless of body mass i.e.: for VO2max (p < 0.05), HRmax (p < 0.0001) and HRAT/HRmax (p < 0.0001). Significantly greater improvement in VO2max was gained by the CC+AC group compared to the AA genotype group. The present results support the hypothesis that individual differences in trainability are at least in part determined by the genetic component and MTHFR A1298C seems to be one of the many polymorphisms involved.
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Affiliation(s)
- Paweł Cięszczyk
- University of Szczecin, Faculty of Physical Education and Health Promotion, Szczecin, Poland
| | - Aleksandra Zarębska
- Gdansk University of Physical Education and Sport, Faculty of Tourism and Recreation, Gdansk, Poland
| | - Zbigniew Jastrzębski
- Gdansk University of Physical Education and Sport, Faculty of Tourism and Recreation, Gdansk, Poland
| | - Michał Sawczyn
- Gdansk University of Physical Education and Sport, Faculty of Tourism and Recreation, Gdansk, Poland
| | | | - Agata Leońska-Duniec
- University of Szczecin, Faculty of Physical Education and Health Promotion, Szczecin, Poland
| | - Mariusz Kaczmarczyk
- Gdansk University of Physical Education and Sport, Faculty of Tourism and Recreation, Gdansk, Poland
| | - Agnieszka Maciejewska-Skrendo
- University of Szczecin, Faculty of Physical Education and Health Promotion, Szczecin, Poland; Institute of Sport, Warsaw, Poland
| | | | - Grzegorz Trybek
- Department of Oral Surgery, Pomeranian Medical University, Szczecin, Poland
| | - Wojciech Smółka
- Clinical Department of Laryngology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
| | - Jan Pilch
- Department of Anatomy and Antropology, Academy of Physical Education in Katowice, Poland
| | - Katarzyna Leźnicka
- University of Szczecin, Faculty of Physical Education and Health Promotion, Szczecin, Poland
| | | | - Marek Sawczuk
- University of Szczecin, Faculty of Physical Education and Health Promotion, Szczecin, Poland; Gdansk University of Physical Education and Sport, Faculty of Tourism and Recreation, Gdansk, Poland
| | - Myosotis Massidda
- Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy
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Rees T, Hardy L, Güllich A, Abernethy B, Côté J, Woodman T, Montgomery H, Laing S, Warr C. The Great British Medalists Project: A Review of Current Knowledge on the Development of the World's Best Sporting Talent. Sports Med 2016; 46:1041-58. [PMID: 26842017 PMCID: PMC4963454 DOI: 10.1007/s40279-016-0476-2] [Citation(s) in RCA: 148] [Impact Index Per Article: 16.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]
Abstract
The literature base regarding the development of sporting talent is extensive, and includes empirical articles, reviews, position papers, academic books, governing body documents, popular books, unpublished theses and anecdotal evidence, and contains numerous models of talent development. With such a varied body of work, the task for researchers, practitioners and policy makers of generating a clear understanding of what is known and what is thought to be true regarding the development of sporting talent is particularly challenging. Drawing on a wide array of expertise, we address this challenge by avoiding adherence to any specific model or area and by providing a reasoned review across three key overarching topics: (a) the performer; (b) the environment; and (c) practice and training. Within each topic sub-section, we review and calibrate evidence by performance level of the samples. We then conclude each sub-section with a brief summary, a rating of the quality of evidence, a recommendation for practice and suggestions for future research. These serve to highlight both our current level of understanding and our level of confidence in providing practice recommendations, but also point to a need for future studies that could offer evidence regarding the complex interactions that almost certainly exist across domains.
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Affiliation(s)
- Tim Rees
- Department of Sport and Physical Activity, Faculty of Management, Bournemouth University, Dorset House, Talbot Campus, Fern Barrow, Poole, BH12 5BB, UK.
| | - Lew Hardy
- Sport, Health and Exercise Sciences, Bangor University, George Building, Bangor, Gwynedd, LL57 2PZ, UK
| | - Arne Güllich
- Department of Sport Science, University of Kaiserslautern, Erwin Schrödinger Street, 67663, Kaiserslautern, Germany
| | - Bruce Abernethy
- School of Human Movement and Nutrition Sciences, Faculty of Health and Behavioral Sciences, The University of Queensland, St Lucia, QLD, 4072, Australia
| | - Jean Côté
- School of Kinesiology and Health Studies, SKHS Building 28 Division Street, Queen's University, Kingston, ON, K7L 3N, Canada
| | - Tim Woodman
- Sport, Health and Exercise Sciences, Bangor University, George Building, Bangor, Gwynedd, LL57 2PZ, UK
| | - Hugh Montgomery
- School of Life and Medical Sciences, University College London, Rockefeller Building, 20, University Street, London, WC1E 6DE, UK
| | - Stewart Laing
- UK Sport, 21 Bloomsbury Street, London, WC1B 3HF, UK
| | - Chelsea Warr
- UK Sport, 21 Bloomsbury Street, London, WC1B 3HF, UK
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37
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González-Haro C, Soria M, Vicente J, Fanlo AJ, Sinués B, Escanero JF. Variants of the Solute Carrier SLC16A1 Gene (MCT1) Associated With Metabolic Responses During a Long-Graded Test in Road Cyclists. J Strength Cond Res 2016; 29:3494-505. [PMID: 26595136 DOI: 10.1519/jsc.0000000000000994] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Abstract
Variants of the solute carrier SLC16A1 gene have been associated with alterations in MCT1 expression, because of a lactate (La) transport deficiency across the cell membrane and a blood La accumulation. The aim of this study was to associate the allelic and genotypic frequencies of 1470T>A, 2917(1414) C>T, and IVS3-17A>C variants relative to the blood La kinetics and metabolic responses to a progressive effort until exhaustion. Twenty-five well-trained road cyclists performed a long-graded laboratory test: 10 minutes at 2.0 W·kg, first step at 2.5 W·kg with increments of 0.5 W·kg every 10 minutes until exhaustion. Blood La, nonesterified fatty acids (NEFAS), and glucose levels were measured; fat and carbohydrate oxidation rates were estimated through stoichiometric equations. Three variants of SLC16A1 gene were determined for each subject, which were divided in two groups: wt (wild type)/mt (mutated type) and mt/mt genotype group versus wt/wt genotype group. Metabolic responses were compared between both groups with an unpaired Student's t-test; Friedman and Wilcoxon tests were performed for nonparametric data. The statistical significance was set at p ≤ 0.05. For 1470TA polymorphism, no significant blood La differences were found between groups. 2197(1414)C>T allele carriers and IVS3-17A>C carriers showed significantly higher blood La levels, lower blood NEFAS, and glucose levels at submaximal intensities. These findings open a new perspective to investigate SLC16A1 variants (1470TA and IVS3-17A>C) on La deficiency transport and its regulation/interaction with other metabolic pathways. Future studies would be needed to clarify whether 1470T>A, 2917(1414)C>T, and IVS3-17A>C allelic/genotypic distribution benefit performance in endurance athletes.
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Affiliation(s)
- Carlos González-Haro
- Department Pharmacology and Physiology, School of Medicine, University of Zaragoza, Zaragoza, Spain
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38
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Burggren WW. Dynamics of epigenetic phenomena: intergenerational and intragenerational phenotype 'washout'. ACTA ACUST UNITED AC 2015; 218:80-7. [PMID: 25568454 DOI: 10.1242/jeb.107318] [Citation(s) in RCA: 81] [Impact Index Per Article: 8.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022]
Abstract
Epigenetic studies of both intragenerational and transgenerational epigenetic phenotypic modifications have proliferated in the last few decades. However, the strong reductionist focus on mechanism that prevails in many epigenetic studies to date has diverted attention away what might be called the 'dynamics' of epigenetics and its role in comparative biology. Epigenetic dynamics describes how both transgenerational and intragenerational epigenetic phenotypic modifications change in non-linear patterns over time. Importantly, a dynamic perspective suggests that epigenetic phenomena should not be regarded as 'digital' (on-off), in which a modified trait necessarily suddenly disappears between one generation and the next. Rather, dynamic epigenetic phenomena may be better depicted by graded, time-related changes that can potentially involve the 'washout' of modified phenotype both within and across generations. Conceivably, an epigenetic effect might also 'wash-in' over multiple generations, and there may be unexplored additive effects resulting from the pressures of environmental stressors that wax, wane and then wax again across multiple generations. Recognition of epigenetic dynamics is also highly dependent on the threshold for detection of the phenotypic modification of interest, especially when phenotypes wash out or wash in. Thus, studies of transgenerational epigenetic effects (and intragenerational effects, for that matter) that search for persistence of the phenomenon are best conducted with highly sensitive, precise quantitative methods. All of the scenarios in this review representing epigenetic dynamics are possible and some even likely. Focused investigations that concentrate on the time course will reveal much about both the impact and mechanisms of epigenetic phenomena.
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Affiliation(s)
- Warren W Burggren
- Developmental Integrative Biology Research Cluster, Department of Biological Sciences, University of North Texas, Denton, TX 76201, USA
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39
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Santos CGM, Pimentel-Coelho PM, Budowle B, de Moura-Neto RS, Dornelas-Ribeiro M, Pompeu FAMS, Silva R. The heritable path of human physical performance: from single polymorphisms to the "next generation". Scand J Med Sci Sports 2015; 26:600-12. [PMID: 26147924 DOI: 10.1111/sms.12503] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 05/12/2015] [Indexed: 12/22/2022]
Abstract
Human physical performance is a complex multifactorial trait. Historically, environmental factors (e.g., diet, training) alone have been unable to explain the basis of all prominent phenotypes for physical performance. Therefore, there has been an interest in the study of the contribution of genetic factors to the development of these phenotypes. Support for a genetic component is found with studies that shown that monozygotic twins were more similar than were dizygotic twins for many physiological traits. The evolution of molecular techniques and the ability to scan the entire human genome enabled association of several genetic polymorphisms with performance. However, some biases related to the selection of cohorts and inadequate definition of the study variables have complicated the already difficult task of studying such a large and polymorphic genome, often resulting in inconsistent results about the influence of candidate genes. This review aims to provide a critical overview of heritable genetic aspects. Novel molecular technologies, such as next-generation sequencing, are discussed and how they can contribute to improving understanding of the molecular basis for athletic performance. It is important to ensure that the large amount of data that can be generated using these tools will be used effectively by ensuring well-designed studies.
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Affiliation(s)
- C G M Santos
- Instituto de Biologia do Exército, Brazillian Army Biologic Institute, Rio de Janeiro, Brazil.,Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
| | - P M Pimentel-Coelho
- Instituto de Biologia do Exército, Brazillian Army Biologic Institute, Rio de Janeiro, Brazil.,Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
| | - B Budowle
- Molecular and Medical Genetics, University of North Texas - Health and Science Center, Fort Worth, Texas, USA.,Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia
| | - R S de Moura-Neto
- Instituto de Biologia, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
| | - M Dornelas-Ribeiro
- Instituto de Biologia do Exército, Brazillian Army Biologic Institute, Rio de Janeiro, Brazil
| | - F A M S Pompeu
- Escola de Educação Física e Desportos, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
| | - R Silva
- Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
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40
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Hecksteden A, Kraushaar J, Scharhag-Rosenberger F, Theisen D, Senn S, Meyer T. Individual response to exercise training - a statistical perspective. J Appl Physiol (1985) 2015; 118:1450-9. [DOI: 10.1152/japplphysiol.00714.2014] [Citation(s) in RCA: 154] [Impact Index Per Article: 15.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/14/2023] Open
Abstract
In the era of personalized medicine, interindividual differences in the magnitude of response to an exercise training program (subject-by-training interaction; “individual response”) have received increasing scientific interest. However, standard approaches for quantification and prediction remain to be established, probably due to the specific considerations associated with interactive effects, in particular on the individual level, compared with the prevailing investigation of main effects. Regarding the quantification of subject-by-training interaction in terms of variance components, confounding sources of variability have to be considered. Clearly, measurement error limits the accuracy of response estimates and thereby contributes to variation. This problem is of particular importance for analyses on the individual level, because a low signal-to-noise ratio may not be compensated by increasing sample size (1 case). Moreover, within-subject variation in training efficacy may contribute to gross response variability. This largely unstudied source of variation may not be disclosed by comparison to a control group but calls for repeated interventions. A second critical point concerns the prediction of response. There is little doubt that exercise training response is influenced by a multitude of determinants. Moreover, indications of interaction between influencing factors of training efficacy lead to the hypothesis that optimal predictive accuracy may be attained using an interactive rather than additive approach. Taken together, aiming at conclusive inference and optimal predictive accuracy in the investigation of subject-by-training interaction entails specific requirements that are deducibly based on statistical principles but beset with many practical difficulties. Therefore, pragmatic alternatives are warranted.
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Affiliation(s)
- Anne Hecksteden
- Institute of Sports and Preventive Medicine, Saarland University, Saarbrücken, Germany
| | - Jochen Kraushaar
- Institute of Sports and Preventive Medicine, Saarland University, Saarbrücken, Germany
| | - Friederike Scharhag-Rosenberger
- Institute of Sports and Preventive Medicine, Saarland University, Saarbrücken, Germany
- Heidelberg University Hospital, National Center for Tumor Diseases (NCT), Heidelberg, Germany
- German University of Applied Sciences for Prevention and Health Management (DHfPG), Saarbrücken, Germany
| | - Daniel Theisen
- Sports Medicine Research Laboratory, Luxembourg Institute of Health, Luxembourg; and
| | - Stephen Senn
- Competence Center in Methodology and Statistics, Luxembourg Institute of Health, Luxembourg
| | - Tim Meyer
- Institute of Sports and Preventive Medicine, Saarland University, Saarbrücken, Germany
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Voisin S, Eynon N, Yan X, Bishop DJ. Exercise training and DNA methylation in humans. Acta Physiol (Oxf) 2015; 213:39-59. [PMID: 25345837 DOI: 10.1111/apha.12414] [Citation(s) in RCA: 165] [Impact Index Per Article: 16.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/26/2014] [Revised: 06/14/2014] [Accepted: 10/18/2014] [Indexed: 12/17/2022]
Abstract
The response to exercise training (trainability) has been shown to have a strong heritable component. There is growing evidence suggesting that traits such as trainability do not only depend on the genetic code, but also on epigenetic signals. Epigenetic signals play an important role in the modulation of gene expression, through mechanisms such as DNA methylation and histone modifications. There is an emerging evidence to show that physical activity influences DNA methylation in humans. The present review aims to summarize current knowledge on the link between DNA methylation and physical activity in humans. We have critically reviewed the literature and only papers focused on physical activity and its influence on DNA methylation status were included; a total of 25 papers were selected. We concluded that both acute and chronic exercises significantly impact DNA methylation, in a highly tissue- and gene-specific manner. This review also provides insights into the molecular mechanisms of exercise-induced DNA methylation changes, and recommendations for future research.
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Affiliation(s)
- S. Voisin
- Institute of Sport, Exercise and Active Living (ISEAL); Victoria University; Melbourne Vic. Australia
| | - N. Eynon
- Institute of Sport, Exercise and Active Living (ISEAL); Victoria University; Melbourne Vic. Australia
- Murdoch Childrens Research Institute; Royal Children's Hospital; Melbourne Vic. Australia
| | - X. Yan
- Institute of Sport, Exercise and Active Living (ISEAL); Victoria University; Melbourne Vic. Australia
- Murdoch Childrens Research Institute; Royal Children's Hospital; Melbourne Vic. Australia
| | - D. J. Bishop
- Institute of Sport, Exercise and Active Living (ISEAL); Victoria University; Melbourne Vic. Australia
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Abstract
Most human phenotypes are influenced by a combination of genomic and environmental factors. Engaging in regular physical exercise prevents many chronic diseases, decreases mortality risk and increases longevity. However, the mechanisms involved are poorly understood. The modulating effect of physical (aerobic and resistance) exercise on gene expression has been known for some time now and has provided us with an understanding of the biological responses to physical exercise. Emerging research data suggest that epigenetic modifications are extremely important for both development and disease in humans. In the current review, we summarise findings on the effect of exercise on epigenetic modifications and their effects on gene expression. Current research data suggest epigenetic modifications (DNA methylation and histone acetylation) and microRNAs (miRNAs) are responsive to acute aerobic and resistance exercise in brain, blood, skeletal and cardiac muscle, adipose tissue and even buccal cells. Six months of aerobic exercise alters whole-genome DNA methylation in skeletal muscle and adipose tissue and directly influences lipogenesis. Some miRNAs are related to maximal oxygen consumption (VO(2max)) and VO(2max) trainability, and are differentially expressed amongst individuals with high and low VO(2max). Remarkably, miRNA expression profiles discriminate between low and high responders to resistance exercise (miR-378, -26a, -29a and -451) and correlate to gains in lean body mass (miR-378). The emerging field of exercise epigenomics is expected to prosper and additional studies may elucidate the clinical relevance of miRNAs and epigenetic modifications, and delineate mechanisms by which exercise confers a healthier phenotype and improves performance.
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Breitbach S, Tug S, Simon P. Conventional and Genetic Talent Identification in Sports: Will Recent Developments Trace Talent? Sports Med 2014; 44:1489-503. [DOI: 10.1007/s40279-014-0221-7] [Citation(s) in RCA: 34] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
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