Article
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.
Autophagy - 1 Nov 2022
Koh Young Ik, Oh Kyung Seok, Kim Jung Ah, Noh Byunghwa, Choi Hye Ji, Joo Sun Young, Rim John Hoon, Kim Hye-Youn, Kim Dong Yun, Yu Seyoung, Kim Da Hye, Lee Sang-Guk, Jung Jinsei, Choi Jae Young, Gee Heon Yung
Abstract excerpt
Intracellular accumulation of mutant proteins causes proteinopathies, which lack targeted therapies. Autosomal dominant hearing loss (DFNA67) is caused by frameshift mutations in OSBPL2. Here, we show that DFNA67 is a toxic proteinopathy. Mutant OSBPL2 accumulated intracellularly and bound to macroautophagy/autophagy proteins. Consequently, its accumulation led to defective endolysosomal homeostasis and impaired...
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