Mitochondrial functional impairment in <i>ARL3</i>-mutation related rod-cone dystrophy.

ABSTRACT: Mitochondria are vital for retinal cell function and survival, and there is growing evidence linking mitochondrial dysfunction to retinal degenerations. Although ARL3 mutations have been linked to multiple forms of retinal degeneration, the relationship between ARL3 and mitochondria remains unexplored. Herein, we investigated the effects of ARL3 ^T31A , ARL3 ^C118F , and ARL3 ^T31A/C118F mutations on mitochondrial function in fibroblasts obtained from patients with ARL3-related rod-cone dystrophy. Our findings revealed that these mutations led to a decrease in mitochondrial respiration, an increase in the accumulation mitochondrial reactive oxygen species (ROS), and induction of apoptosis in fibroblasts. Additio

SUBMITTER: Zhang X 

PROVIDER: S-EPMC11539027 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature