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


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.

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Figure 1: Respiratory chain deficiency and analysis of mtDNA deletions in substantia nigra neurons.
Figure 2: Characterization and quantification of mtDNA deletion in substantia nigra neurons from individuals with Parkinson disease and from age-matched controls.


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This work has been supported by Alzheimer's Research Trust, Wellcome Trust, Medical Research Council UK and European Neurological Society.

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Correspondence to Douglass M Turnbull.

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The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

Characterization of real-time PCR assay. (PDF 54 kb)

Supplementary Table

Primers used. (PDF 73 kb)

Supplementary Methods (PDF 108 kb)

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Bender, A., Krishnan, K., Morris, C. et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 38, 515–517 (2006).

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