Physiology and pathophysiology of mitochondrial DNA.
Physiology and pathophysiology of mitochondrial DNA.
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DOI：
10.1007/978-94-007-2869-1_2
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发表时间：
2012
影响因子：
--
通讯作者：
Bai Y
中科院分区：
文献类型：
--
作者：
Li H;Liu D;Lu J;Bai Y
线粒体是动物细胞中唯一拥有自己基因组的细胞器。线粒体DNA（mtDNA）的改变与各种人类疾病有关。然而，它们在发病机制中的作用在很大程度上仍不清楚。本文主要介绍了mtDNA的几个主要特征：（1）mtDNA单倍群，（2）mtDNA常见缺失，（3）mtDNA控制区或D环突变，（4）mtDNA拷贝数改变，（5）mtDNA翻译机制突变，（6）mtDNA蛋白质编码基因突变，（7）mtDNA异质性。我们还将讨论它们在各种人类疾病中的意义。
Mitochondria are the only organelles in animal cells which possess their own genomes. Mitochondrial DNA (mtDNA) alterations have been associated with various human conditions. Yet, their role in pathogenesis remains largely unclear. This review focuses on several major features of mtDNA: (1) mtDNA haplogroup, (2) mtDNA common deletion, (3) mtDNA mutations in the control region or D-loop, (4) mtDNA copy number alterations, (5) mtDNA mutations in translational machinery, (6) mtDNA mutations in protein coding genes (7) mtDNA heteroplasmy. We will also discuss their implications in various human diseases.