Simon I, Schaefer M, Reichert J, Stremmel W. Analysis of the human Atox 1 homologue in Wilson patients. World J Gastroenterol 2008; 14(15): 2383-2387 [PMID: 18416466 DOI: 10.3748/wjg.14.2383]
Corresponding Author of This Article
Mark Schaefer, MD, Department of Gastroenterology, University of Heidelberg, INF 410, D-69120 Heidelberg, Germany. kontakt@dr-schaefer-praxis.de
Article-Type of This Article
Rapid Communication
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World J Gastroenterol. Apr 21, 2008; 14(15): 2383-2387 Published online Apr 21, 2008. doi: 10.3748/wjg.14.2383
Analysis of the human Atox 1 homologue in Wilson patients
Isabel Simon, Mark Schaefer, Jürgen Reichert, Wolfgang Stremmel
Isabel Simon, Mark Schaefer, Jürgen Reichert, Wolfgang Stremmel, Department of Gastroenterology, University of Heidelberg, Germany
Author contributions: Simon I and Schaefer M contributed equally to this article. Simon I carried out the genetic tests and prepared part of the manuscript; Schaefer M has designed and coordinated the study, and prepared and revised the manuscript, and was active in acquisition of patients; Reichert J carried out some of the mutational analysis, data bank searches and statistical analysis and given technical assistance. Stremmel W improved the final manuscript and was active in acquisition of patients.
Correspondence to: Mark Schaefer, MD, Department of Gastroenterology, University of Heidelberg, INF 410, D-69120 Heidelberg, Germany. kontakt@dr-schaefer-praxis.de
Telephone: +49-6221-28029
Fax: +49-6221-162321
Received: October 23, 2006 Revised: February 6, 2008 Published online: April 21, 2008
Abstract
AIM: To analyze the metallochaperone antioxidant-1 (Atox1) gene sequence in Wilson disease patients.
METHODS: Mutation analysis of the four exons of the Atox1 gene including the intron- exon boundaries was performed in 63 Wilson disease patients by direct sequencing.
RESULTS: From 63 selected patients no mutations were identified after the entire coding region including the intron- exon boundaries of Atox1 were sequenced. One known polymorphism within the Atox1 gene (5’UTR -99 T>C) in 31 (49%) of the Wilson patients as well as one previously undescribed variation (5’UTR -68 C>T) in 2 of the Wilson patients could be detected. Statistical analyses revealed that the existence of a variation within the Atox1- gene showed a tendency towards an earlier onset of the disease.
CONCLUSION: Based on the data of this study, no major role can be attributed to Atox1 in the pathophysiology or clinical variation of Wilson disease.
