衰老和帕金森病患者黑质神经元中线粒体DNA缺失水平较高。

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

作者信息

Bender Andreas, Krishnan Kim J, Morris Christopher M, Taylor Geoffrey A, Reeve Amy K, Perry Robert H, Jaros Evelyn, Hersheson Joshua S, Betts Joanne, Klopstock Thomas, Taylor Robert W, Turnbull Douglass M

机构信息

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, NE2 4HH, UK.

出版信息

Nat Genet. 2006 May;38(5):515-7. doi: 10.1038/ng1769. Epub 2006 Apr 9.

DOI:10.1038/ng1769

PMID:16604074

Abstract

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.

摘要

我们在此表明，在老年对照个体和帕金森病患者的黑质神经元中，存在高水平的缺失型线粒体DNA（mtDNA）（对照个体中为43.3%±9.3%；帕金森病患者中为52.3%±9.3%）。这些mtDNA突变是体细胞性的，单个细胞中存在不同的克隆性扩增缺失，并且这些突变的高水平与呼吸链缺陷相关。我们的研究表明，体细胞mtDNA缺失在脑衰老和帕金森病中观察到的选择性神经元丢失中起重要作用。