Aggregation of the Constitutively Active K296E Rhodopsin Mutant Contributes to Retinal Degeneration.

ABSTRACT: A K296E mutation in rhodopsin causes autosomal dominant retinitis pigmentosa, a progressive retinal degenerative disease. Early characterizations of this mutation indicated that it causes the receptor to be constitutively active, which has been the primary focus when considering the pathogenic mechanism of the mutation thus far. Knockin mice expressing the K296E rhodopsin mutant were generated and characterized to better understand the pathogenic mechanism of the mutation. Knockin mice exhibited progressive retinal degeneration characteristic of retinitis pigmentosa. The K296E rhodopsin mutant mislocalized in photoreceptor cells and, surprisingly, appeared to aggregate, as indicated by the dye PROTEOSTAT, which binds protein aggregates. The propensity of the K296E rhodopsin mutant to aggre

SUBMITTER: Vasudevan S 

PROVIDER: S-EPMC12265397 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature