Department of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Suzhou Medical College, Soochow University, Suzhou 215000, China.
Department of Endocrinology and Metabolism, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, Shanghai 200072, China.
Stem Cell Res. 2024 Jun;77:103387. doi: 10.1016/j.scr.2024.103387. Epub 2024 Mar 12.
Mitochondrial diseases are disorders caused primarily by mutations in mitochondrial DNA, with the mitochondrial 3243A > G (m.3243A > G) mutation being one of the most common pathogenic mutations. Here, a pluripotent stem cell line with high m.3243A > G mutation load was generated by reprogramming the skin fibroblasts from a patient with mitochondrial disease. This cell line exhibited pluripotency, multilineage differentiation potential and normal karyotype, representing a valuable cell resource for studying the pathogenesis of mitochondrial diseases and screening drugs.
线粒体疾病主要由线粒体 DNA 突变引起，其中线粒体 3243A>G（m.3243A>G）突变是最常见的致病性突变之一。本研究通过重编程线粒体疾病患者的皮肤成纤维细胞，生成了一个携带高 m.3243A>G 突变负荷的多能干细胞系。该细胞系具有多能性、多向分化潜能和正常核型，为研究线粒体疾病的发病机制和药物筛选提供了有价值的细胞资源。
