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Brief Communication

Nature Genetics 38, 518–520 (1 May 2006) | doi:10.1038/ng1778

Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons

Yevgenya Kraytsberg , Elena Kudryavtseva , Ann C McKee , Changiz Geula , Neil W Kowall & Konstantin Khrapko

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.