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

Lookup NU author(s): Professor Patrick Chinnery, Emeritus Professor Doug Turnbull


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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.

Publication metadata

Author(s): Chinnery PF; Turnbull DM; Taylor GA; Howell N; Brown DT; Parsons TJ

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2001

Volume: 68

Issue: 2

Pages: 529-532

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press


DOI: 10.1086/318204

PubMed id: 11133363


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