Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa.
Human blinding disorders are often initiated by hereditary mutations that insult rod and/or cone photoreceptors and cause subsequent cellular death. Generally, the disease phenotype can be predicted from the specific mutation as many photoreceptor genes are specific to rods or cones; however certain genes, such as Retinal Degeneration Slow (RDS), are expressed in both cell types and cause different forms of retinal disease affecting rods, cones, or both photoreceptors. RDS is a transmembrane glycoprotein critical for photoreceptor outer segment disc morphogenesis, structural maintenance, and renewal. Studies using animal models with Rds mutations provide valuable insight into Rds gene function and regulation; and a better understanding of the physiology, pathology, and underlying degenerative mechanisms of inherited retinal disease. Furthermore, these models are an excellent tool in the process of developing therapeutic interventions for the treatment of inherited retinal degenerations. In this paper, we review these topics with particular focus on the use of rds models in gene therapy.
Cai
Xue
X
Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Conley
Shannon M
SM
Naash
Muna I
MI
D000818:Animals; D004195:Disease Models, Animal; D015316:Genetic Therapy; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000627:therapeutic use*; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000627:therapeutic use*; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000627:therapeutic use*; D064531:Peripherins; D012174:Retinitis Pigmentosa / Q000628:therapy*; D014780:Viruses / Q000378:metabolism
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578997:PRPH2 protein, human; D064531:Peripherins