In:
Annual Review of Physiology, Annual Reviews, Vol. 64, No. 1 ( 2002-03), p. 877-897
Kurzfassung:
▪ Abstract 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 β and γ 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.
Materialart:
Online-Ressource
ISSN:
0066-4278
,
1545-1585
DOI:
10.1146/physiol.2002.64.issue-1
DOI:
10.1146/annurev.physiol.64.082101.143243
Sprache:
Englisch
Verlag:
Annual Reviews
Publikationsdatum:
2002
ZDB Id:
1474465-X
SSG:
12
