The human mitochondrial genome is replicated by DNA polymerase γ in concert with key components of the mitochondrial DNA (mtDNA) replication machinery. Defects in mtDNA replication or nucleotide metabolism cause deletions, point mutations, or depletion of mtDNA. The resulting loss of cellular respiration ultimately induces mitochondrial genetic diseases, including mtDNA depletion syndromes (MDS) such as Alpers or early infantile hepatocerebral syndromes, and mtDNA deletion disorders such as progressive external ophthalmoplegia, ataxia-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy. Here we review the current literature regarding human mtDNA replication and heritable disorders caused by genetic changes of the POLG, POLG2, Twinkle, RNASEH1, DNA2, and MGME1 genes.

中文翻译：

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人类线粒体DNA复制机制和疾病。

DNA聚合酶γ与线粒体DNA（mtDNA）复制机制的关键组成部分一起复制人线粒体基因组。mtDNA复制或核苷酸代谢缺陷会导致mtDNA缺失，突变或耗尽。最终导致的细胞呼吸丧失最终导致线粒体遗传疾病，包括mtDNA消耗综合症（MDS）（例如Alpers或早期的婴儿肝脑综合征）和mt​​DNA缺失疾病（例如进行性外部眼肌麻痹，共济失调神经病或线粒体神经胃肠道脑病）。在这里，我们回顾了有关人类mtDNA复制和由POLG，POLG2，Twinkle，RNASEH1，DNA2和MGME1基因的遗传变化引起的遗传性疾病的现有文献。