title: 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.affiliation: Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Turin, Turin, Italy.
authors.forename: T A
authors.initials: TA
authors.lastname: Williams
authors.affiliation: Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: J W M
authors.initials: JW
authors.lastname: Lenders
authors.affiliation: Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Turin, Turin, Italy.
authors.forename: J
authors.initials: J
authors.lastname: Burrello
authors.affiliation: Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Beuschlein
authors.affiliation: Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Reincke
mesh_terms: D000236:Adenoma / Q000235:genetics; D000450:Aldosterone / Q000096:biosynthesis; D005260:Female; D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D012641:Selection, Genetic; D012727:Sex Characteristics; D017673:Sodium Chloride, Dietary / Q000009:adverse effects*
chemical_list: D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels; C484274:KCNJ5 protein, human; D017673:Sodium Chloride, Dietary; D000450:Aldosterone