What causes mitochondrial DNA deletions in human cells?
What causes mitochondrial DNA deletions in human cells?
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DOI：
10.1038/ng.f.94
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发表时间：
2008-03-01
期刊：
影响因子：
30.8
通讯作者：
Turnbull, Doug M.
中科院分区：
文献类型：
--
作者：
Krishnan, Kim J.;Reeve, Amy K.;Turnbull, Doug M.
线粒体 DNA (mtDNA) 缺失是线粒体疾病的主要原因，并且可能在有丝分裂后组织的衰老中发挥核心作用。了解这些 mtDNA 缺失的形成机制和随后的克隆扩增是试图防止其发生的重要的第一步。我们回顾了之前的文献和我们自己实验室的最新结果，并得出结论，线粒体DNA缺失最有可能发生在受损线粒体DNA的修复过程中，而不是复制过程中。这一结论对于预防 mtDNA 疾病具有重要意义，并可能对我们了解衰老过程具有重要意义。
Mitochondrial DNA (mtDNA) deletions are a primary cause of mitochondrial disease and are likely to have a central role in the aging of postmitotic tissues. Understanding the mechanism of the formation and subsequent clonal expansion of these mtDNA deletions is an essential first step in trying to prevent their occurrence. We review the previous literature and recent results from our own laboratories, and conclude that mtDNA deletions are most likely to occur during repair of damaged mtDNA rather than during replication. This conclusion has important implications for prevention of mtDNA disease and, potentially, for our understanding of the aging process.