Dysfunction of epithelial sodium transport: from human to mouse.

Détails

ID Serval
serval:BIB_588FF2495060
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
Dysfunction of epithelial sodium transport: from human to mouse.
Périodique
Kidney International
Auteur(s)
Bonny O., Hummler E.
ISSN
0085-2538 (Print)
ISSN-L
0085-2538
Statut éditorial
Publié
Date de publication
2000
Volume
57
Numéro
4
Pages
1313-1318
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Publication Status: ppublish
Résumé
The highly amiloride-sensitive epithelial sodium channel (ENaC) is an apical membrane constituent of cells of many salt-absorbing epithelia. In the kidney, the functional relevance of ENaC expression has been well established. ENaC mediates the aldosterone-dependent sodium reabsorption in the distal nephron and is involved in the regulation of blood pressure. Mutations in genes encoding ENaC subunits are causative for two human inherited diseases: Liddle's syndrome, a severe form of hypertension associated with ENaC hyperfunction, and pseudohypoaldosteronism (PHA-1), a salt-wasting syndrome caused by decreased ENaC function. Transgenic mouse technologies provide a useful tool to study the role of ENaC in vivo. Different mouse lines have been established in which each of the ENaC subunits was affected. The phenotypes observed in these mice demonstrated that each subunit is essential for survival and for regulation of sodium transport in kidney and colon. Moreover, the alpha subunit plays a specific role in the control of fluid absorption in the airways at birth. Such mice can now be used to study the role of ENaC in various organs and can serve as models to understand the pathophysiology of these human diseases.
Mots-clé
Animals, Colon/metabolism, Epithelial Sodium Channels, Humans, Hypertension/genetics, Kidney/metabolism, Lung/metabolism, Mice, Mutation/physiology, Pseudohypoaldosteronism/genetics, Sodium Channels/deficiency, Sodium Channels/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
24/01/2008 13:42
Dernière modification de la notice
20/08/2019 15:12
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