Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit

J Clin Endocrinol Metab. 2005 Jan;90(1):340-4. doi: 10.1210/jc.2004-1027. Epub 2004 Oct 13.

Abstract

Liddle's syndrome is an autosomal dominant form of salt-sensitive hypertension and has been shown to be caused by missense or frameshift mutations in the amiloride-sensitive epithelial sodium channel (ENaC), which is composed of three subunits: alpha, beta, and gamma. All disease mutations either remove or alter amino acids of the target proline-rich PPPxY sequence (PY motif) of beta- or gamma-ENaC and result in increased channel activity. In this report, we present a family with Liddle's syndrome whose abnormality is caused by a novel missense mutation, P616R, in the PY motif of the betaENaC. Functional studies using the P616R mutant expressed in Xenopus oocytes showed an approximately 6-fold increase in the amiloride-sensitive sodium channel activity compared with that of the wild type. These findings provide additional clinical evidence that a conserved PY motif is critically important for the regulation of ENaC activity.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Amino Acid Motifs
  • Animals
  • Child
  • Epithelial Sodium Channels
  • Female
  • Humans
  • Hypertension / genetics*
  • Mutation, Missense*
  • Proline
  • Protein Subunits
  • Sodium Channels / chemistry
  • Sodium Channels / genetics*
  • Sodium Channels / physiology
  • Syndrome
  • Xenopus

Substances

  • Epithelial Sodium Channels
  • Protein Subunits
  • Sodium Channels
  • Proline