Protein misfolding and potential therapeutic treatments in inherited retinopathies.

摘要: Retinitis pigmentosa (RP) is a group of inherited retinopathies characterized by progressive peripheral vision loss that can subsequently lead to central loss. RP one the most common causes registered visual handicap among those working age in developed countries, and currently it estimated affect 1 3,500 people worldwide. At genetic level, heterogeneous conditions, segregating autosomal dominant, recessive, or X-linked recessive modes, with approximately 40 genes having been implicated disease pathology (http://www.sph.uth.tmc.edu/RetNet). To date, there growing list destabilizing mutations within retinal-specific nonspecific (e.g., RHO, RPGR, RS1, BBS6, AIPL1, RDS-peripherin, IMPDH1, etc.) have found cause proteins misfold become aggregation-prone subsequent normal protein functions. In this minireview, we will briefly explore role misfolding plays as mechanism dominant also highlight potential therapeutic strategies for inhibiting aggregation retina.