基因编辑在线粒体疾病中的应用

Applications of Gene Editing in Mitochondrial Diseases

线粒体作为细胞的能量工厂,在维持细胞能量代谢与人类生命活动中发挥着至关重要的作用.线粒体基因组的突变会导致一系列线粒体遗传代谢疾病的发生,严重威胁人类生命健康,发展靶向线粒体的基因编辑手段对于线粒体疾病的治疗具有重要意义.近年来,以限制性核酸酶、锌指核酸酶、转录激活因子样效应核酸酶、规律成簇的间隔短回文重复序列(CRISPR)以及碱基编辑器为代表的一系列基因编辑方法迅速发展.本文综合评述了基因编辑工具应用于哺乳动物细胞的线粒体DNA的研究进展、不足和发展方向,以期为线粒体疾病治疗技术的开发提供参考.

Mitochondria,as energy factories of cells,play an important role in maintaining cell energy metabolism and human life activities.The mutations of mitochondrial genome have led to a series of mitochondrial diseases,which seriously threaten human life and health.The development of gene editing methods targeting mitochondria is of great significance for the treatment of mitochondrial diseases.In recent years,a series of gene editing methods including restriction nuclease,zinc finger nuclease,transcriptional activator like effector nuclease,clustered regularly interspaced short palindromic repeats(CRISPR)and mitochondrial base editor have been developed.This article reviewed the recent progresses,deficiencies and prospects of the applications of gene editing tools for mitochondria gene editing.We hope it could provide reference for the development of mitochondrial disease treatment.