Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa

Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for Rhodopsin human retinitis pigmentosa

rhodopsin mutations result in autosomal dominant retinitis pigmentosa (ADRP ), the most frequent being Proline-23 substitution by histidine (Rho). Although cellular and rodent animal models have been developed, the pathogenic mechanisms leading to Rho-induced cell death are still poorly understood. For this, we have used a Drosophila model by introducing a mutation in the fly rhodopsin-1 gene (...

Rhodopsin transgenic pigs as a model for human retinitis pigmentosa.

PURPOSE To further characterize the retinas of Pro3471Leu rhodopsin transgenic pigs, a model for human retinitis pigmentosa. METHODS Retinas from normal and transgenic pigs, newborn to 20 months old, were processed for light and electron microscopic immunocytochemical examination. RESULTS At birth, rod numbers were normal in the transgenic retinas, but their outer segments were short and di...

Distinct Forms of Photoreceptor Cell Death in Retinitis Pigmentosa

Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa.

Retinitis pigmentosa (RP) is a group of inherited human diseases in which photoreceptor degeneration leads to visual loss and eventually to blindness. Although mutations in the rhodopsin, peripherin, and cGMP phosphodiesterase genes have been identified in some forms of RP, it remains to be determined whether these mutations lead to photoreceptor cell death through necrotic or apoptotic mechani...

Erythropoietin Slows Photoreceptor Cell Death in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa

PURPOSE To test the efficacy of systemic gene delivery of a mutant form of erythropoietin (EPO-R76E) that has attenuated erythropoietic activity, in a mouse model of autosomal dominant retinitis pigmentosa. METHODS Ten-day old mice carrying one copy of human rhodopsin with the P23H mutation and both copies of wild-type mouse rhodopsin (hP23H RHO+/-,mRHO+/+) were injected into the quadriceps w...