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Genetic disorders of membrane transport. V. The epithelial sodium channel and its implication in human diseases.
Journal article

Genetic disorders of membrane transport. V. The epithelial sodium channel and its implication in human diseases.

  • Hummler E Institut de Pharmacologie et de Toxicologie, Université de Lausanne, CH-1005 Lausanne, Switzerland.
  • Horisberger JD
  • 1999-03-10
Published in:
  • The American journal of physiology. - 1999
Animals
Biological Transport
Epithelial Sodium Channels
Genetic Diseases, Inborn
Humans
Membrane Proteins
Mice
Mice, Transgenic
Mutation
Sodium Channels
English The epithelial Na+ channel (ENaC) controls the rate-limiting step in the process of transepithelial Na+ reabsorption in the distal nephron, the distal colon, and the airways. Hereditary salt-losing syndromes have been ascribed to loss of function mutations in the alpha-, beta-, or gamma-ENaC subunit genes, whereas gain of function mutations (located in the COOH terminus of the beta- or gamma-subunit) result in hypertension due to Na+ retention (Liddle's syndrome). In mice, gene-targeting experiments have shown that, in addition to the kidney salt-wasting phenotype, ENaC was essential for lung fluid clearance in newborn mice. Disruption of the alpha-subunit resulted in a complete abolition of ENaC-mediated Na+ transport, whereas knockout of the beta- or gamma-subunit had only minor effects on fluid clearance in lung. Disruption of each of the three subunits resulted in a salt-wasting syndrome similar to that observed in humans.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/139073
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