Detection of a specific mitochondrial DNA deletion in tissues of older humans

Gino A Cortopassi, Norman Arnheim

Research output: Contribution to journalArticlepeer-review

651 Scopus citations


Using PCR, we found that normal heart muscle and brain from adult human individuals contain low levels of a specific mitochondriaL DNA deletion, previously found only in patients affected with certain types of neuromuscular disease. This deletion was not observed in fetal heart or brain. Experimental tests support the idea that the deletion exists in vivo in adult mitochondria and is not an in vitro artifact of PCR. Our data provide direct experimental support for the idea that accumulation of mitochondrial DNA deletions may be important in aging.

Original languageEnglish (US)
Pages (from-to)6927-6933
Number of pages7
JournalNucleic Acids Research
Issue number23
StatePublished - Dec 11 1990
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Health, Toxicology and Mutagenesis
  • Toxicology
  • Genetics(clinical)


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