Why some photoreceptors die, while others remain dormant: lessons from RPE65 and LRAT associated retinal dystrophies.
OBJECTIVE
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.
McGill Ocular Genetics Laboratory, McGill University, Montreal, Canada. robkoenekoop@hotmail.com
Robert K
RK
Koenekoop
D000217:Acyltransferases / Q000235:genetics*; D017209:Apoptosis; D002352:Carrier Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology*; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000378:metabolism; D058499:Retinal Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D014785:Vision, Ocular; D051028:bcl-2-Associated X Protein / Q000378:metabolism; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
D000217:Acyltransferases; D002352:Carrier Proteins; D005136:Eye Proteins; D019253:Proto-Oncogene Proteins c-bcl-2; D051028:bcl-2-Associated X Protein; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase; C056942:lecithin-retinol acyltransferase