从一名患有线粒体DNA A8344G突变及肌阵挛性癫痫伴破碎红纤维（MERRF）综合征的40岁患者身上生成诱导多能干细胞（iPSC）系。

Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome.

作者信息

Wu Yu-Ting, Hsu Yu-Hung, Huang Ching-Ying, Ho Ming-Ching, Cheng Yu-Che, Wen Cheng-Hao, Ko Hui-Wen, Lu Huai-En, Chen Yen-Chun, Tsai Chia-Ling, Hsu Yi-Chao, Wei Yau-Huei, Hsieh Patrick C H

机构信息

Center for Mitochondrial Medicine and Free Radical Research, Changhua Christian Hospital, Changhua, Taiwan.

Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.

出版信息

Stem Cell Res. 2018 Mar;27:10-14. doi: 10.1016/j.scr.2017.12.013. Epub 2017 Dec 19.

DOI:10.1016/j.scr.2017.12.013

PMID:29288969

Abstract

Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNA gene of mitochondrial DNA (mtDNA) and is characterized by myoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient. This patient-specific iPSC line expressed pluripotent stem cell markers, possessed normal karyotype, and displayed the capability to differentiate into mature cells in three germ layers.

摘要

线粒体缺陷与从常见疾病到罕见遗传疾病的临床表现相关。伴有破碎红纤维的肌阵挛性癫痫（MERRF）综合征是由线粒体DNA（mtDNA）的tRNA基因中第8344位核苷酸由A向G的转变引起的，其特征为肌阵挛、肌病和严重的神经症状。在本研究中，使用仙台重编程方法从一名MERRF患者生成了携带mtDNA A8344G突变的诱导多能干细胞系。该患者特异性诱导多能干细胞系表达多能干细胞标志物，具有正常的核型，并表现出分化为三个胚层成熟细胞的能力。