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

P. F. Chinnery, G. A. Taylor, N. Howell, D. T. Brown, T. J. Parsons, D. M. Turnbull

Research output: Contribution to journalArticle

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Abstract

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 neuroclegenerative disease.

Original languageEnglish (US)
Pages (from-to)529-532
Number of pages4
JournalAmerican Journal of Human Genetics
Volume68
Issue number2
DOIs
StatePublished - Jan 1 2001

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Chinnery, P. F., Taylor, G. A., Howell, N., Brown, D. T., Parsons, T. J., & Turnbull, D. M. (2001). Point mutations of the mtDNA control region in normal and neurodegenerative human brains. American Journal of Human Genetics, 68(2), 529-532. https://doi.org/10.1086/318204