KCNJ5 Mutations: Sex, Salt and Selection.

Abstract

Somatic mutations have been identified in the KCNJ5 gene (encoding the potassium channel GIRK4) in aldosterone-producing adenomas (APA). Most of these mutations are located in or near the selectivity filter of the GIRK4 channel pore and several have been shown to lead to the constitutive overproduction of aldosterone. KCNJ5 mutations in APA are more frequent in women; however, this gender dimorphism is a reported phenomenon of Western but not East Asian populations. In this review we discuss some of the issues that could potentially underlie this observation.

• Authors: T A Williams, J W M Lenders, J Burrello, F Beuschlein, M Reincke
• Journal: Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme (Horm Metab Res) Vol. 47 Issue 13 Pg. 953-8 (Dec 2015) ISSN: 1439-4286 [Electronic] Germany
• PMID: 26566104 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: © Georg Thieme Verlag KG Stuttgart · New York.

Chemical References

• G Protein-Coupled Inwardly-Rectifying Potassium Channels
• KCNJ5 protein, human
• Sodium Chloride, Dietary
• Aldosterone

Topics

• Adenoma (genetics)
• Aldosterone (biosynthesis)
• Female
• G Protein-Coupled Inwardly-Rectifying Potassium Channels (chemistry, genetics)
• Humans
• Male
• Mutation (genetics)
• Selection, Genetic
• Sex Characteristics
• Sodium Chloride, Dietary (adverse effects)