Channelopathies converge on TRPV4

Nat Genet. 2010 Feb;42(2):98-100. doi: 10.1038/ng0210-98.

Abstract

Scapuloperoneal spinal muscular atrophy and Charcot-Marie-Tooth disease type 2C are inherited neurodegenerative diseases characterized by sensory defects and muscle weakness. Three new studies demonstrate that they are allelic disorders caused by mutations in the vanilloid transient receptor potential cation-channel gene TRPV4.

Publication types

  • Comment
  • News

MeSH terms

  • Ankyrin Repeat
  • Channelopathies / genetics*
  • Charcot-Marie-Tooth Disease / genetics
  • Hereditary Sensory and Motor Neuropathy / genetics
  • Humans
  • Muscular Atrophy, Spinal / complications
  • Muscular Atrophy, Spinal / genetics
  • TRPV Cation Channels / chemistry
  • TRPV Cation Channels / genetics*

Substances

  • TRPV Cation Channels
  • TRPV4 protein, human