线粒体 DNA 的生理学和病理生理学。
Physiology and pathophysiology of mitochondrial DNA.
机构信息
Wenzhou Medical College, Wenzhou, Zhejiang, China.
出版信息
Adv Exp Med Biol. 2012;942:39-51. doi: 10.1007/978-94-007-2869-1_2.
Abstract
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.
摘要
线粒体是动物细胞中唯一拥有自身基因组的细胞器。线粒体 DNA（mtDNA）的改变与多种人类疾病有关。然而，其在发病机制中的作用在很大程度上仍不清楚。本文综述了 mtDNA 的几个主要特征：（1）mtDNA 单倍群；（2）mtDNA 常见缺失；（3）控制区或 D-环中的 mtDNA 突变；（4）mtDNA 拷贝数改变；（5）翻译机制中的 mtDNA 突变；（6）蛋白质编码基因中的 mtDNA 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。
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