Point mutations of the mtDNA control region in normal and neurodegenerative human brains

Am J Hum Genet. 2001 Feb;68(2):529-32. doi: 10.1086/318204. Epub 2000 Dec 21.


Recent observations in cultured human fibroblasts suggest that the accumulation of point mutations in the noncoding control region of mtDNA may be important in human aging. We studied the mtDNA control region in brain tissue from 31 normal elderly individuals, from 35 individuals who had Alzheimer disease, and from 47 individuals who had dementia with Lewy bodies. We found no evidence that these somatic mtDNA point mutations accumulate either in the brains of normal elderly individuals or in the brains of individuals with neurodegenerative disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alzheimer Disease / genetics
  • Base Sequence
  • Brain / metabolism*
  • Brain / pathology
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA, Mitochondrial / chemistry
  • DNA, Mitochondrial / genetics*
  • Humans
  • Lewy Body Disease / genetics
  • Neurodegenerative Diseases / genetics*
  • Point Mutation


  • DNA, Mitochondrial
  • DNA