Point Mutations of the mtDNA Control Region in Normal and Neurodegenerative Human Brains

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 d...

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Bibliographic Details
Published in:American journal of human genetics 2001-02, Vol.68 (2), p.529-532
Main Authors: Chinnery, P.F., Taylor, G.A., Howell, N., Brown, D.T., Parsons, T.J., Turnbull, D.M.
Format: Article
Language:English
Subjects:
Aged
Alzheimer Disease - genetics
Base Sequence
Biological and medical sciences
Brain - metabolism
Brain - pathology
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
DNA, Mitochondrial - chemistry
DNA, Mitochondrial - genetics
Humans
Lewy Body Disease - genetics
Medical sciences
Neurodegenerative Diseases - genetics
Neurology
Point Mutation
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Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1086/318204