Sequence analysis of the entire mitochondrial genome in Parkinson's disease Academic Article uri icon


MeSH Major

  • DNA, Mitochondrial
  • Genome, Human
  • Parkinson Disease


  • The pathogenesis of Parkinson's disease (PD) is largely unknown. Indirect evidence suggests that mutations in mitochondrial DNA (mtDNA) might play a role, but previous studies have not consistently associated any specific mutations with PD. However, these studies have generally been confined to limited areas of the mitochondrial genome. We therefore sequenced the entire mitochondrial genome from substantia nigra of 8 PD and 9 control subjects. Several sequence variants were distributed differently between PD and control subjects, but all were previously reported polymorphisms. Several secondary LHON mutations were found, as well as a number of novel missense mutations, but all were rare and did not differ between PD and control subjects. Finally, PD and control subjects did not differ in the total number of all mutations, nor the total number of missense mutations. Thus, mtDNA involvement in PD, if any, is likely to be complex and should be reconsidered carefully.

publication date

  • July 6, 2002



  • Academic Article



  • eng

Digital Object Identifier (DOI)

  • 10.1006/bbrc.2002.6388

PubMed ID

  • 11820805

Additional Document Info

start page

  • 1593

end page

  • 601


  • 290


  • 5