Mitochondrial DNA mutations in Alzheimer's disease

Biochem Biophys Res Commun. 1997 Dec 18;241(2):221-5. doi: 10.1006/bbrc.1997.7793.


Several reports have indicated that point mutations of the mitochondrial DNA (mtDNA) contribute to the pathogenesis of Alzheimer's disease (AD). However, other groups have failed to find similar associations between these mutations and AD. A recent report described a set of mutations in the mtDNA encoded cytochrome oxidase genes which may account for 20% of all AD cases. We screened brain tissue from 65 AD patients for each of these previously reported mtDNA mutations but were unable to find an increased incidence of any of them in our AD sample. However, one patient with a mutation in the APP gene did harbour a novel mtDNA mutation (G to C at position 5705 in the tRNAAsn gene) that might have contributed to the very early onset of dementia in this individual. The role of mtDNA mutations in the pathogenesis of AD remains unclear, but they do not appear to be primary causes but may contribute to the onset of the disease.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / etiology
  • Alzheimer Disease / genetics*
  • Brain / pathology
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / genetics
  • Humans
  • Point Mutation*
  • RNA, Transfer, Leu / genetics


  • DNA, Mitochondrial
  • RNA, Transfer, Leu
  • Electron Transport Complex IV