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2006:
Kraytsberg Yevgenya; Kudryavtseva Elena; McKee Ann C; Geula Changiz; Kowall Neil W; Khrapko Konstantin
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.
Nature genetics 2006;
38(
5):.
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.
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