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- Title
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.
- Authors
Kraytsberg, Yevgenya; Kudryavtseva, Elena; McKee, Ann C; Geula, Changiz; Kowall, Neil W; Khrapko, Konstantin
- Abstract
Using a novel single-molecule PCR approach to quantify the total burden of mitochondrial DNA (mtDNA) molecules with deletions, we show that a high proportion of individual pigmented neurons in the aged human substantia nigra contain very high levels of mtDNA deletions. Molecules with deletions are largely clonal within each neuron; that is, they originate from a single deleted mtDNA molecule that has expanded clonally. The fraction of mtDNA deletions is significantly higher in cytochrome c oxidase (COX)-deficient neurons than in COX-positive neurons, suggesting that mtDNA deletions may be directly responsible for impaired cellular respiration.
- Publication
Nature genetics, 2006, Vol 38, Issue 5, p518
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1778