title: Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.
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.
authors.affiliation: Department of Medical Sciences, Division of Internal Medicine and Hypertension, University of Torino, Torino, Italy. Electronic address: smv.monticone@gmail.com.
authors.forename: Silvia
authors.initials: S
authors.lastname: Monticone
authors.affiliation: Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Medical School, Ann Arbor, MI, USA.
authors.forename: Tobias
authors.initials: T
authors.lastname: Else
authors.affiliation: Department of Medical Sciences, Division of Internal Medicine and Hypertension, University of Torino, Torino, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Mulatero
authors.affiliation: Department of Medical Sciences, Division of Internal Medicine and Hypertension, University of Torino, Torino, Italy.
authors.forename: Tracy A
authors.initials: TA
authors.lastname: Williams
authors.affiliation: Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI, USA.
authors.forename: William E
authors.initials: WE
authors.lastname: Rainey
mesh_terms: D000450:Aldosterone / Q000235:genetics / Q000378:metabolism; D000818:Animals; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics / Q000378:metabolism
chemical_list: D000450:Aldosterone
keywords: ATP1A1; ATP2B3; CACNA1D; Exome sequencing; KCNJ5; Primary aldosteronism