Genetic disorders of membrane transport. V. The epithelial sodium channel and its implication in human diseases

Détails

ID Serval
serval:BIB_84605E4ED1AB
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
Genetic disorders of membrane transport. V. The epithelial sodium channel and its implication in human diseases
Périodique
American Journal of Physiology
Auteur(s)
Hummler  E., Horisberger  J. D.
ISSN
0193-1857
Statut éditorial
Publié
Date de publication
03/1999
Volume
276
Numéro
3 Pt 1
Pages
G567-71
Notes
Journal Article
Research Support, Non-U.S. Gov't
Review --- Old month value: Mar
Résumé
The epithelial Na+ channel (ENaC) controls the rate-limiting step in the process of transepithelial Na+ reabsorption in the distal nephron, the distal colon, and the airways. Hereditary salt-losing syndromes have been ascribed to loss of function mutations in the alpha-, beta-, or gamma-ENaC subunit genes, whereas gain of function mutations (located in the COOH terminus of the beta- or gamma-subunit) result in hypertension due to Na+ retention (Liddle's syndrome). In mice, gene-targeting experiments have shown that, in addition to the kidney salt-wasting phenotype, ENaC was essential for lung fluid clearance in newborn mice. Disruption of the alpha-subunit resulted in a complete abolition of ENaC-mediated Na+ transport, whereas knockout of the beta- or gamma-subunit had only minor effects on fluid clearance in lung. Disruption of each of the three subunits resulted in a salt-wasting syndrome similar to that observed in humans.
Mots-clé
Animals Biological Transport/physiology Epithelial Sodium Channel Genetic Diseases, Inborn/*genetics Humans Membrane Proteins/*genetics/*metabolism Mice Mice, Transgenic/genetics Mutation/genetics Sodium Channels/genetics/*metabolism
Pubmed
Web of science
Création de la notice
24/01/2008 13:37
Dernière modification de la notice
03/03/2018 18:54
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