Article
ATF5, a putative therapeutic target for the mitochondrial DNA 3243A > G mutation-related disease.
Cell death & disease - 14 Jul 2021
Gao Xinpei, Jiang Zhixin, Yan Xinfeng, Liu Jiping, Li Fengwen, Liu Peng, Li Jialu, Wei Yuehua, Sun Yi Eve, Zhang Yinan, Wang Congrong
Abstract excerpt
The mitochondrial DNA m.3243A > G mutation is well-known to cause a variety of clinical phenotypes, including diabetes, deafness, and osteoporosis. Here, we report isolation and expansion of urine-derived stem cells (USCs) from patients carrying the m.3243A > G mutation, which demonstrate bimodal heteroplasmy. USCs with high levels of m.3243A > G mutation displayed abnormal mitochondrial morphology and function,...
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