Chloride channelopathies

Biochim Biophys Acta. 2009 Mar;1792(3):173-89. doi: 10.1016/j.bbadis.2009.02.002.


Channelopathies, defined as diseases that are caused by mutations in genes encoding ion channels, are associated with a wide variety of symptoms. Impaired chloride transport can cause diseases as diverse as cystic fibrosis, myotonia, epilepsy, hyperekplexia, lysosomal storage disease, deafness, renal salt loss, kidney stones and osteopetrosis. These disorders are caused by mutations in genes belonging to non-related gene families, i.e. CLC chloride channels and transporters, ABC transporters, and GABA- and glycine receptors. Diseases due to mutations in TMEM16E and bestrophin 1 might be due to a loss of Ca++-activated Cl- channels, although this remains to be shown.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Bestrophins
  • Channelopathies / physiopathology*
  • Chloride Channels / genetics
  • Chloride Channels / metabolism*
  • Chlorides / metabolism*
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism
  • Epilepsy / physiopathology
  • Eye Proteins / genetics
  • Eye Proteins / metabolism
  • Humans
  • Myotonia / physiopathology
  • Receptors, GABA-A / genetics
  • Receptors, GABA-A / metabolism
  • Receptors, Glycine / genetics
  • Receptors, Glycine / metabolism


  • BEST1 protein, human
  • BSND protein, human
  • Bestrophins
  • Chloride Channels
  • Chlorides
  • Eye Proteins
  • Receptors, GABA-A
  • Receptors, Glycine
  • Cystic Fibrosis Transmembrane Conductance Regulator