Understanding primary aldosteronism: impact of next generation sequencing and expression profiling

Mol Cell Endocrinol. 2015 Jan 5:399:311-20. doi: 10.1016/j.mce.2014.09.015. Epub 2014 Sep 18.

Abstract

Primary aldosteronism (PA) encompasses a broad, heterogeneous group of disorders including both sporadic and familial forms (familial hyperaldosteronism type I, II and III). PA is the most common form of secondary hypertension and associated with a higher rate of cardiovascular complications, compared with essential hypertension. Despite significant progress in the diagnosis and management of PA, until recently the molecular mechanisms leading to inappropriate aldosterone production were largely unknown. The introduction of next-generation sequencing has had a profound impact on the field of human genetics and has given new insight in the molecular determinants that lead to both sporadic and familial forms of PA. Here we review the recent progress toward understanding of the genetic and molecular mechanisms leading to autonomous aldosterone production in PA.

Keywords: ATP1A1; ATP2B3; CACNA1D; Exome sequencing; KCNJ5; Primary aldosteronism.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aldosterone* / genetics
  • Aldosterone* / metabolism
  • Animals
  • Gene Expression Profiling*
  • Gene Expression Regulation*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Hyperaldosteronism* / genetics
  • Hyperaldosteronism* / metabolism

Substances

  • Aldosterone