Unfolding retinal dystrophies: a role for molecular chaperones?

Trends Mol Med. 2001 Sep;7(9):414-21. doi: 10.1016/s1471-4914(01)02103-7.

Abstract

Inherited retinal dystrophy is a major cause of blindness worldwide. Recent molecular studies have suggested that protein folding and molecular chaperones might play a major role in the pathogenesis of these degenerations. Incorrect protein folding could be a common consequence of causative mutations in retinal degeneration disease genes, particularly mutations in the visual pigment rhodopsin. Furthermore, several retinal degeneration disease genes have recently been identified as putative facilitators of correct protein folding, molecular chaperones, on the basis of sequence homology. We also consider whether manipulation of chaperone levels or chaperone function might offer potential novel therapies for retinal degeneration.

Publication types

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

MeSH terms

  • Animals
  • Group II Chaperonins
  • Humans
  • Models, Molecular
  • Molecular Chaperones / genetics
  • Molecular Chaperones / metabolism*
  • Photoreceptor Cells / cytology
  • Photoreceptor Cells / metabolism
  • Protein Conformation
  • Protein Folding
  • Retina / metabolism
  • Retina / pathology
  • Retinal Diseases / genetics
  • Retinal Diseases / metabolism*
  • Retinal Diseases / pathology
  • Retinal Diseases / therapy
  • Retinitis Pigmentosa / genetics
  • Retinitis Pigmentosa / metabolism
  • Retinitis Pigmentosa / pathology
  • Rhodopsin / chemistry
  • Rhodopsin / genetics
  • Rhodopsin / metabolism

Substances

  • MKKS protein, human
  • Molecular Chaperones
  • Rhodopsin
  • Group II Chaperonins