Genetic and Genomic Mechanisms of Primary Aldosteronism.
Journal
Trends in molecular medicine
ISSN: 1471-499X
Titre abrégé: Trends Mol Med
Pays: England
ID NLM: 100966035
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
12
03
2020
revised:
13
05
2020
accepted:
20
05
2020
pubmed:
22
6
2020
medline:
9
7
2021
entrez:
22
6
2020
Statut:
ppublish
Résumé
Aldosterone-producing adenoma (APA) and bilateral adrenal hyperplasia are the main cause of primary aldosteronism (PA), the most frequent form of secondary hypertension. Mutations in ion channels and ATPases have been identified in APA and inherited forms of PA, highlighting the central role of calcium signaling in PA development. Different somatic mutations are also found in aldosterone-producing cell clusters in adrenal glands from healthy individuals and from patients with unilateral and bilateral PA, suggesting additional pathogenic mechanisms. Recent mouse models have also contributed to a better understanding of PA. Application of genetic screening in familial PA, development of surrogate biomarkers for somatic mutations in APA, and use of targeted treatment directed at mutated proteins may allow improved management of patients.
Identifiants
pubmed: 32563556
pii: S1471-4914(20)30134-9
doi: 10.1016/j.molmed.2020.05.005
pii:
doi:
Substances chimiques
Aldosterone
4964P6T9RB
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
819-832Informations de copyright
Copyright © 2020 Elsevier Ltd. All rights reserved.