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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

659 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)518-520
Number of pages3
JournalNature Genetics
Volume38
Issue number5
DOIs
StatePublished - May 2006

ASJC Scopus subject areas

  • Genetics

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