Mitochondrial DNA mutations in disease and aging.

Mitochondrial DNA mutations in disease and aging.
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DOI:
10.1083/jcb.201010024
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发表时间:
2011-05-30
期刊:
The Journal of cell biology
影响因子:
--
通讯作者:
Larsson NG
Larsson NG
中科院分区:
其他
文献类型:
--
作者:
Park CB;Larsson NG

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小型哺乳动物线粒体DNA(mtDNA)是非常基因密集的,并且编码氧化磷酸化的关键因子。线粒体DNA的突变导致多种人类线粒体疾病,并且也与年龄相关疾病和衰老密切相关。在过去的二十年里,我们对mtDNA突变在人类病理学中的作用的理解取得了相当大的进展,但线粒体遗传学中的重要机制仍有待于在分子水平上解释。此外,越来越多的证据表明,大多数mtDNA突变可能是由复制错误而不是累积损伤产生的。
The small mammalian mitochondrial DNA (mtDNA) is very gene dense and encodes factors critical for oxidative phosphorylation. Mutations of mtDNA cause a variety of human mitochondrial diseases and are also heavily implicated in age-associated disease and aging. There has been considerable progress in our understanding of the role for mtDNA mutations in human pathology during the last two decades, but important mechanisms in mitochondrial genetics remain to be explained at the molecular level. In addition, mounting evidence suggests that most mtDNA mutations may be generated by replication errors and not by accumulated damage.
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