Jaurretche SPA, Balañá C, Bascolo RM. Mineralocorticoid receptor genetics: A scoping review. World J Med Genet 2026; 14(1): 115237 [DOI: 10.5496/wjmg.115237]
Corresponding Author of This Article
Sebastián Pedro Antonio Jaurretche, Professor, Uro-Onco-Nephrology and Transplant, Sanatorio Parque SA, Oroño 860, Rosario 2000, Santa Fe, Argentina. sebastianjaurretche5@gmail.com
Research Domain of This Article
Genetics & Heredity
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review-article
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World J Med Genet. Sep 30, 2026; 14(1): 115237 Published online Sep 30, 2026. doi: 10.5496/wjmg.115237
Mineralocorticoid receptor genetics: A scoping review
Sebastián Pedro Antonio Jaurretche, Clara Balañá, Renata Máxima Bascolo
Sebastián Pedro Antonio Jaurretche, Uro-Onco-Nephrology and Transplant, Sanatorio Parque SA, Rosario 2000, Santa Fe, Argentina
Sebastián Pedro Antonio Jaurretche, Clara Balañá, Renata Máxima Bascolo, Biophysics and Human Physiology, School of Medicine, Instituto Universitario Italiano de Rosario, Rosario 2000, Santa Fe, Argentina
Author contributions: Jaurretche SPA contributed to manuscript conceptualization and writing, methodological design, and final manuscript revision; Balañá C, Bascolo RM contributed to writing of the manuscript and performed the research. All authors approved the final version of the manuscript.
AI contribution statement: AI tools (ChatGpt) were used solely for linguistic refinement and formatting assistance. No AI tool was involved in the generation of research data, interpretation of results, or formulation of conclusions. All AI-generated outputs were critically reviewed and revised by the authors.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest with the content of this manuscript.
Corresponding author: Sebastián Pedro Antonio Jaurretche, Professor, Uro-Onco-Nephrology and Transplant, Sanatorio Parque SA, Oroño 860, Rosario 2000, Santa Fe, Argentina. sebastianjaurretche5@gmail.com
Received: October 14, 2025 Revised: November 20, 2025 Accepted: February 11, 2026 Published online: September 30, 2026 Processing time: 352 Days and 13.6 Hours
Abstract
The concept of the mineralocorticoid receptor (MR) has evolved to be recognized as a key regulator of blood pressure homeostasis and multisystem physiology. Beyond its classical roles in renal sodium and water balance, MR activity influences cardiovascular, metabolic, and neurological processes, among others. Advancing our understanding of MR is essential for: (1) Improving pharmacological MR modulation; (2) Optimizing experimental and translational models; and (3) Enhancing the clinical data interpretation. Although substantial progress has been made in elucidating MR molecular biology, knowledge regarding its genetic remains limited. Considering the potential impact of genetic variants on MR structure and function, this review focuses on the current evidence surrounding MR genetics. To date, 460 germline variants of the MR gene have been reported, primarily associated with two phenotypes: (1) Autosomal dominant early-onset hypertension exacerbated during pregnancy; and (2) Autosomal dominant pseudohypoaldosteronism type-I. Therefore, genetics provides a framework for connecting molecular alterations of MR with clinical phenotypes, deepening our understanding of interindividual variability and enabling the development of personalized therapeutic strategies.
Core Tip: The mineralocorticoid receptor (MR) has emerged as a multifaceted regulator extending beyond electrolyte and blood pressure control to roles in cardiovascular, renal, metabolic, and neural physiology. In addition, MR is expressed in various tissues and organs in humans. However, the genetic dimension of MR function remains underexplored, and the genotype-phenotype correlation is only known for a few MR gene mutations. The genetics of the MR determine its functionality; therefore, a better understanding of it can be the basis of a personalized medicine approach.
