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

被引：75

作者：

Chinnery, PF

Taylor, GA

Howell, N

Brown, DT

Parsons, TJ

Turnbull, DM

机构：

[1] Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] MRC, Dev Ctr Clin Brain Aging, Newcastle Upon Tyne, Tyne & Wear, England

[3] Univ Texas, Med Branch, Dept Radiat Oncol, Galveston, TX 77550 USA

[4] Univ Texas, Med Branch, Dept Human Biol Chem & Genet, Galveston, TX 77550 USA

[5] Armed Forces DNA Identificat Lab, Rockville, MD USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 68卷 / 02期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

D O I：

10.1086/318204

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：529 / 532

页数：4