High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
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DOI:
10.1038/ng1769
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发表时间:
2006-05-01
期刊:
影响因子:
30.8
通讯作者:
Turnbull, DM
Turnbull, DM
中科院分区:
生物学1区
文献类型:
--
作者:
Bender, A;Krishnan, KJ;Turnbull, DM

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在这里,我们发现在老年对照组和帕金森病患者的黑质神经元中,都有高水平的线粒体DNA(MtDNA)缺失(对照组,43.3%+/-9.3%;帕金森病患者,52.3%+/-9.3%)。这些线粒体DNA突变是体细胞的,在单个细胞中有不同的克隆性扩展缺失,这些突变的高水平与呼吸链缺陷有关。我们的研究表明,在脑老化和帕金森病中观察到的选择性神经元丢失中,体细胞mtDNA缺失是重要的。
Here we show that in substantia nigra neurons from both aged controls and individuals with Parkinson disease, there is a high level of deleted mitochondrial DNA (mtDNA) (controls, 43.3% +/- 9.3%; individuals with Parkinson disease, 52.3% +/- 9.3%). These mtDNA mutations are somatic, with different clonally expanded deletions in individual cells, and high levels of these mutations are associated with respiratory chain deficiency. Our studies suggest that somatic mtDNA deletions are important in the selective neuronal loss observed in brain aging and in Parkinson disease.