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

Nucleic Acids Res. 1990 Dec 11;18(23):6927-33. doi: 10.1093/nar/18.23.6927.


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.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aging / genetics*
  • Base Sequence
  • Brain / embryology
  • Brain Chemistry*
  • DNA, Mitochondrial / genetics*
  • Female
  • Fetal Death
  • Fetal Heart / chemistry
  • Humans
  • Infant, Newborn
  • Male
  • Middle Aged
  • Mitochondria, Heart / chemistry*
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • Reference Values
  • Restriction Mapping


  • DNA, Mitochondrial