Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors.

Détails

ID Serval
serval:BIB_0397EA158203
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors.
Périodique
Annual Review of Physiology
Auteur(s)
Rossier B.C., Pradervand S., Schild L., Hummler E.
ISSN
0066-4278
ISSN-L
0066-4278
Statut éditorial
Publié
Date de publication
2002
Peer-reviewed
Oui
Volume
64
Pages
877-897
Langue
anglais
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Résumé
The epithelial sodium channel (ENaC) expressed in aldosterone-responsive epithelial cells of the kidney and colon plays a critical role in the control of sodium balance, blood volume, and blood pressure. In lung, ENaC has a distinct role in controlling the ionic composition of the air-liquid interface and thus the rate of mucociliary transport. Loss-of-function mutations in ENaC cause a severe salt-wasting syndrome in human pseudohypoaldosteronism type 1 (PHA-1). Gain-of-function mutations in ENaC beta and gamma subunits cause pseudoaldosteronism (Liddle's syndrome), a severe form of salt-sensitive hypertension. This review discusses genetically defined forms of a salt sensitivity and salt resistance in human monogenic diseases and in animal models mimicking PHA-1 or Liddle's syndrome. The complex interaction between genetic factors (ENaC mutations) and the risk factor (salt intake) can now be studied experimentally. The role of single-nucleotide polymorphisms (SNPs) in determining salt sensitivity or salt resistance in general populations is one of the main challenges of the post-genomic era.
Mots-clé
Aldosterone/metabolism, Animals, Epithelial Sodium Channel, Extravascular Lung Water/metabolism, Humans, Hypertension/metabolism, Sodium/metabolism, Sodium Channels/genetics, Sodium Channels/metabolism
Pubmed
Web of science
Création de la notice
24/01/2008 14:00
Dernière modification de la notice
20/08/2019 13:25
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