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线粒体基因组(mt DNA)的突变可导致多种人类疾病,其中绝大多数的mt DNA突变是异质性的:即在细胞中同时存在突变型和野生型的mt DNA,当突变型mt DNA的比例达到一定阈值时,就会引发疾病的发生。线粒体靶向的核酸内切酶可以诱导mt DNA异质性的改变,将突变型mt DNA的含量控制在发病阈值之下,从而达到疾病治疗的目的。本研究介绍了线粒体靶向的锌指核酸酶(ZFN)、类转录激活样效应因子核酸酶(TALEN)、规律成簇间隔短回文重复序列(CRISPR/Cas)以及常规的限制性核酸内切酶(restriction endonuclease,RE)在线粒体基因组编辑及疾病治疗中的应用。
Mutations in the mitochondrial genome (mt DNA) can lead to a variety of human diseases, of which the vast majority of mt DNA mutations are heterogeneous: both mutant and wild-type mt DNA are present in the cell, and when mutated mt DNA The proportion reaches a certain threshold, it will trigger the disease. Mitochondrial targeted endonuclease can induce the change of mt DNA heterogeneity, and control the content of mutant mt DNA below the threshold of disease so as to achieve the aim of disease treatment. In this study, mitochondria-targeted ZFN, TALEN, CRISPR / Cas and regular restriction endonucleases were introduced. Restriction endonuclease (RE) in mitochondrial genome editing and disease treatment.