Quantitation of a mitochondrial DNA deletion in Parkinson's disease

FEBS Lett. 1992 Mar 16;299(3):218-22. doi: 10.1016/0014-5793(92)80118-z.


A 5 kilobase deletion in mitochondrial DNA (mtDNA) has been reported to be responsible for the specific complex I deficiency in the substantia nigra (SN) of the Parkinson's disease (PD) brain. We have studied mitochondrial respiratory chain function in the SN from control and PD subjects, and analysed mtDNA, extracted from the same tissues, by Southern blot and the polymerase chain reaction (PCR). Quantitation of the levels of the deletion indicate that it does not contribute to the pathogenesis of PD nor to a complex I deficiency but seems likely to be an age-related observation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • DNA, Mitochondrial / analysis
  • DNA, Mitochondrial / genetics*
  • Humans
  • Mutation
  • Parkinson Disease / genetics*
  • Polymerase Chain Reaction
  • Substantia Nigra / chemistry*


  • DNA, Mitochondrial