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

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


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aging / genetics*
  • Base Sequence
  • DNA, Mitochondrial / genetics*
  • Humans
  • Parkinson Disease / genetics*
  • Sequence Deletion*
  • Substantia Nigra / pathology*


  • DNA, Mitochondrial