title: Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model.
abstract: Patients with Bardet-Biedl syndrome (BBS) experience severe retinal degeneration as a result of impaired photoreceptor transport processes that are not yet fully understood. To date, there is no effective treatment for BBS-associated retinal degeneration, and blindness is imminent by the second decade of life. Here we report the development of an adeno-associated viral (AAV) vector that rescues rhodopsin mislocalization, maintains nearly normal-appearing rod outer segments, and prevents photoreceptor death in the Bbs4-null mouse model. Analysis of the electroretinogram a-wave indicates that rescued rod cells are functionally indistinguishable from wild-type rods. These results demonstrate that gene therapy can prevent retinal degeneration in a mammalian BBS model.
authors: Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA. dlsimons@bcm.edu
authors: David L
authors: DL
authors: Simons
authors: Sanford L
authors: SL
authors: Boye
authors: William W
authors: WW
authors: Hauswirth
authors: Samuel M
authors: SM
authors: Wu
mesh_terms: D000818:Animals; D017209:Apoptosis; D020788:Bardet-Biedl Syndrome / Q000150:complications / Q000628:therapy*; D004195:Disease Models, Animal; D015316:Genetic Therapy; D005822:Genetic Vectors; D051379:Mice; D018345:Mice, Knockout; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology / Q000502:physiology*; D012160:Retina / Q000473:pathology / Q000503:physiopathology; D012162:Retinal Degeneration / Q000209:etiology / Q000473:pathology / Q000517:prevention & control*; D019076:Transgenes
chemical_list: C506281:BBS4 protein, mouse; D008869:Microtubule-Associated Proteins