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Horm Metab Res 2015; 47(13): 953-958
DOI: 10.1055/s-0035-1565090
Review

KCNJ5 Mutations: Sex, Salt and Selection

T. A. Williams
1   Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Turin, Turin, Italy
2   Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany
,
J. W. M. Lenders
3   Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands
4   Department of Internal Medicine III, Technische Universität Dresden, Dresden, Germany
,
J. Burrello
1   Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Turin, Turin, Italy
,
F. Beuschlein
2   Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany
,
M. Reincke
2   Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany
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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.

Key words

aldosterone-producing adenoma - primary aldosteronism - KCNJ5 - potassium channel


Publication History

Received: 19 August 2015

Accepted: 07 October 2015

Article published online:
13 November 2015

Georg Thieme Verlag
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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