Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration

Physiology (Bethesda). 2005 Oct;20:292-302. doi: 10.1152/physiol.00021.2005.

Abstract

Recent evidence suggests that Cl(-) ion channels are important for retinal integrity. Bestrophin Cl(-) channel mutations in humans are genetically linked to a juvenile form of macular degeneration, and disruption of some ClC Cl(-) channels in mice leads to retinal degeneration. In both cases, accumulation of lipofuscin pigment is a key feature of the cellular degeneration. Because Cl(-) channels regulate the ionic environment inside organelles in the endosomal-lysosomal pathway, retinal degeneration may result from defects in lysosomal trafficking or function.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Bestrophins
  • Chloride Channels / genetics
  • Chloride Channels / metabolism*
  • Eye / metabolism*
  • Eye Proteins / metabolism*
  • Humans
  • Lipofuscin / metabolism
  • Macular Degeneration / genetics
  • Mutation
  • Neuronal Ceroid-Lipofuscinoses / metabolism*
  • Organelles / metabolism
  • Retinal Degeneration / metabolism*

Substances

  • BEST1 protein, human
  • Bestrophins
  • Chloride Channels
  • Eye Proteins
  • Lipofuscin