Aggregation of rhodopsin mutants in mouse models of autosomal dominant retinitis pigmentosa.

ABSTRACT: Mutations in rhodopsin can cause it to misfold and lead to retinal degeneration. A distinguishing feature of these mutants in vitro is that they mislocalize and aggregate. It is unclear whether or not these features contribute to retinal degeneration observed in vivo. The effect of P23H and G188R misfolding mutations were examined in a heterologous expression system and knockin mouse models, including a mouse model generated here expressing the G188R rhodopsin mutant. In vitro characterizations demonstrate that both mutants aggregate, with the G188R mutant exhibiting a more severe aggregation profile compared to the P23H mutant. The potential for rhodopsin mutants to aggregate in vivo was assessed by PROTEOSTAT, a dye that labels aggregated proteins. Both mutants mislocalize in photorecept

SUBMITTER: Vasudevan S 

PROVIDER: S-EPMC10873427 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature