Why some photoreceptors die, while others remain dormant: lessons from RPE65 and LRAT associated retinal dystrophies

Ophthalmic Genet. 2011 Jun;32(2):126-8. doi: 10.3109/13816810.2010.544361. Epub 2011 Jan 26.

Abstract

Purpose: Why some photoreceptors die and other do not is not well understood, but is a fascinating and important emerging concept, now that gene and drug therapy have shown preliminary positive results in treatments for patients with gene specific retinal degenerations.

Results: This review discusses these concepts and a new study that shows that continuous activation of the phototransduction cascade activates Bcl-2 apoptotic pathways. Knockout out of Bax revealed rescue from apoptosis, indicating that bax inhibition may be an avenue for pharmocological intervention.

Publication types

  • Review

MeSH terms

  • Acyltransferases / genetics*
  • Apoptosis*
  • Carrier Proteins / genetics*
  • Eye Proteins / genetics*
  • Humans
  • Mutation
  • Photoreceptor Cells, Vertebrate / pathology*
  • Proto-Oncogene Proteins c-bcl-2 / metabolism
  • Retinal Dystrophies / genetics*
  • Retinal Dystrophies / metabolism
  • Retinal Dystrophies / pathology
  • Vision, Ocular
  • bcl-2-Associated X Protein / metabolism
  • cis-trans-Isomerases

Substances

  • Carrier Proteins
  • Eye Proteins
  • Proto-Oncogene Proteins c-bcl-2
  • bcl-2-Associated X Protein
  • Acyltransferases
  • lecithin-retinol acyltransferase
  • retinoid isomerohydrolase
  • cis-trans-Isomerases