title: Dysfunction of epithelial sodium transport: from human to mouse.
abstract: 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.
authors.affiliation: Institut de Pharmacologie et de Toxicologie, Université de Lausanne, Lausanne, Switzerland.
authors.forename: O
authors.initials: O
authors.lastname: Bonny
authors.forename: E
authors.initials: E
authors.lastname: Hummler
mesh_terms: D000818:Animals; D003106:Colon / Q000378:metabolism; D053503:Epithelial Sodium Channels; D006801:Humans; D006973:Hypertension / Q000235:genetics; D007668:Kidney / Q000378:metabolism; D008168:Lung / Q000378:metabolism; D051379:Mice; D009154:Mutation / Q000502:physiology*; D011546:Pseudohypoaldosteronism / Q000235:genetics; D015222:Sodium Channels / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism*
chemical_list: D053503:Epithelial Sodium Channels; D015222:Sodium Channels