Affiliations 

  • 1 1Department of Medicine, Universiti Kebangsaan Malaysia, Malaysia 2Department of Pathology, Universiti Kebangsaan Malaysia, Malaysia 3Department of Internal Medicine, Medical Faculty Hradec Kralove Charles University Prague, Malaysia 4UKM Medical Molecular Biology Institute, Universiti Kebangsaan Malaysia, Malaysia
J Hypertens, 2016 Sep;34 Suppl 1 - ISH 2016 Abstract Book:e550.
PMID: 27754305

Abstract

Aldosterone-producing adenoma (APA) is a common curable cause of hypertension. Somatic mutations in five genes (KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1) have been found to cause the excess aldosterone production of two thirds of APAs [1-4]. KCNJ5 mutant APAs, the most common and largest, had explicit genotype-phenotype relationship - a low protein expression of KCNJ5 relative to their peritumoural zona glomerulosa (ZG) and a zona fasciculata-like composition [5-6]. Conversely for the other genes, controversy arises on whether they have the opposite cell phenotype [4,7-8]. This prospective study aim to to characterize the histopathological-specific mutation spectrum of APAs.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.