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Brief Communication

Nature Genetics 38, 515–517 (1 May 2006) | doi:10.1038/ng1769

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

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

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% |[plusmn]| 9.3%; individuals with Parkinson disease, 52.3% |[plusmn]| 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.