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.
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Acknowledgements
This work has been supported by Alzheimer's Research Trust, Wellcome Trust, Medical Research Council UK and European Neurological Society.
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Supplementary information
Supplementary Fig. 1
Characterization of real-time PCR assay. (PDF 54 kb)
Supplementary Table
Primers used. (PDF 73 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). https://doi.org/10.1038/ng1769
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DOI: https://doi.org/10.1038/ng1769
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