Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors

Annu Rev Physiol. 2002:64:877-97. doi: 10.1146/annurev.physiol.64.082101.143243.

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 beta and gamma 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.

Publication types

  • Review

MeSH terms

  • Aldosterone / metabolism
  • Animals
  • Epithelial Sodium Channels
  • Extravascular Lung Water / metabolism
  • Humans
  • Hypertension / metabolism
  • Sodium / metabolism*
  • Sodium Channels / genetics*
  • Sodium Channels / metabolism*

Substances

  • Epithelial Sodium Channels
  • SCNN1B protein, human
  • Sodium Channels
  • Aldosterone
  • Sodium