正常和神经退行性变的人类大脑中线粒体DNA控制区的点突变
Point mutations of the mtDNA control region in normal and neurodegenerative human brains.
作者信息
Chinnery P F, Taylor G A, Howell N, Brown D T, Parsons T J, Turnbull D M
机构信息
Department of Neurology, The Medical School, University of Newcastle upon Tyne, NE2 4HH, United Kingdom.
出版信息
Am J Hum Genet. 2001 Feb;68(2):529-32. doi: 10.1086/318204. Epub 2000 Dec 21.
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 neurodegenerative disease.
摘要
近期在培养的人成纤维细胞中的观察结果表明，线粒体DNA（mtDNA）非编码控制区点突变的积累可能在人类衰老过程中起重要作用。我们研究了31名正常老年人、35名患有阿尔茨海默病的个体以及47名患有路易体痴呆的个体脑组织中的mtDNA控制区。我们没有发现证据表明这些体细胞mtDNA点突变会在正常老年人的大脑中或患有神经退行性疾病的个体大脑中积累。
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