Epithelial sodium channel, salt intake, and hypertension.
The epithelial sodium channel (ENaC) is a membrane protein made of three different but homologous subunits (a, b, and g) present in the apical membrane of epithelial cells of, for example, the distal nephron. This channel is responsible for salt reabsorption in the kidney and can cause human diseases by increasing channel function in Liddle's syndrome, a form of hereditary hypertension, or by decreasing channel function in pseudohypoaldosteronism type I, a salt-wasting disease in infancy. This review briefly discusses recent advances in understanding the implication of ENaC in Liddle's syndrome and in pseudohypoaldosteronism type I, both caused by mutations in the SCNN1 (ENaC) genes. Furthermore, it is still an open question to which extent SCNN1 genes coding for ENaC might be implicated in essential hypertension. The development of Scnn1 genetically engineered mouse models will provide the opportunity to test the effect of environmental factors, like salt intake, on the development of this kind of salt- sensitive hypertension.
Hummler
Edith
E
Institut de Pharmacologie et de Toxicologie, Université de Lausanne, Rue du Bugnon 27, CH-1005 Lausanne, Switzerland. Edith.HummlerBeermann@ipharm.unil.ch
D000818:Animals; D004195:Disease Models, Animal; D053503:Epithelial Sodium Channels; D006801:Humans; D006973:Hypertension / Q000235:genetics* / Q000503:physiopathology; D051379:Mice; D009154:Mutation; D011188:Potassium / Q000378:metabolism; D011546:Pseudohypoaldosteronism / Q000235:genetics / Q000503:physiopathology; D051381:Rats; D012964:Sodium / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics* / Q000502:physiology; D012982:Sodium, Dietary / Q000008:administration & dosage* / Q000009:adverse effects; D013577:Syndrome
D053503:Epithelial Sodium Channels; C507045:SCNN1A protein, human; C507047:Scnn1a protein, mouse; D015222:Sodium Channels; D012982:Sodium, Dietary; D012964:Sodium; D011188:Potassium