Ontology highlight
ABSTRACT:
SUBMITTER: Gao X
PROVIDER: S-EPMC8280182 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
Gao Xinpei X Jiang Zhixin Z Yan Xinfeng X Liu Jiping J Li Fengwen F Liu Peng P Li Jialu J Wei Yuehua Y Sun Yi Eve YE Zhang Yinan Y Wang Congrong C
Cell death & disease 20210714 7
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, as well as elevated ATF5-dependent mitochondrial unfolded protein response (UPR<sup> ...[more]