A Y178C rhodopsin mutation causes aggregation and comparatively severe retinal degeneration.

ABSTRACT: Rhodopsin is the light-activated G protein-coupled receptor that initiates vision in photoreceptor cells of the retina. Numerous mutations in rhodopsin promote receptor misfolding and aggregation, causing autosomal dominant retinitis pigmentosa, a progressive retinal degenerative disease. The mechanism by which these mutations cause photoreceptor cell death, and the role aggregation plays in this process is still unclear. We recently demonstrated with the P23H and G188R rhodopsin mutants that the severity of aggregation observed in vitro is also reflected in vivo and impacts the rate of retinal degeneration. A Y178C rhodopsin mutant was investigated here to determine if this relationship applies broadly among mutations that cause misfolding and aggregation of the receptor. In vitro charact

SUBMITTER: Vasudevan S 

PROVIDER: S-EPMC11775123 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature