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

收藏

页码：529 / 532

页数：4

相关论文

共 11 条

[1] SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME [J].

ANDERSON, S ;

BANKIER, AT ;

BARRELL, BG ;

DEBRUIJN, MHL ;

COULSON, AR ;

DROUIN, J ;

EPERON, IC ;

NIERLICH, DP ;

ROE, BA ;

SANGER, F ;

SCHREIER, PH ;

SMITH, AJH ;

STADEN, R ;

YOUNG, IG .

NATURE, 1981, 290 (5806) :457-465

[2] Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA [J].

Andrews, RM ;

Kubacka, I ;

Chinnery, PF ;

Lightowlers, RN ;

Turnbull, DM ;

Howell, N .

NATURE GENETICS, 1999, 23 (02) :147-147

[3] Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes [J].

Bidooki, SK ;

Johnson, MA ;

ChrzanowskaLightowlers, Z ;

Bindoff, LA ;

Lightowlers, RN .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (06) :1430-1438

[4] Role of mitochondrial DNA mutations in human aging: Implications for the central nervous system and muscle [J].

Brierley, EJ ;

Johnson, MA ;

Lightowlers, RN ;

James, OFW ;

Turnbull, DM .

ANNALS OF NEUROLOGY, 1998, 43 (02) :217-223

[5] Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies [J].

Chinnery, PF ;

Taylor, GA ;

Howell, N ;

Andrews, RM ;

Morris, CM ;

Taylor, RW ;

McKeith, IG ;

Perry, RH ;

Edwardson, JA ;

Turnbull, DM .

NEUROLOGY, 2000, 55 (02) :302-304

[6] MITOCHONDRIAL-DNA DELETIONS IN HUMAN BRAIN - REGIONAL VARIABILITY AND INCREASE WITH ADVANCED AGE [J].

CORRALDEBRINSKI, M ;

HORTON, T ;

LOTT, MT ;

SHOFFNER, JM ;

BEAL, MF ;

WALLACE, DC .

NATURE GENETICS, 1992, 2 (04) :324-329

[7] DETECTION OF A SPECIFIC MITOCHONDRIAL-DNA DELETION IN TISSUES OF OLDER HUMANS [J].

CORTOPASSI, GA ;

ARNHEIM, N .

NUCLEIC ACIDS RESEARCH, 1990, 18 (23) :6927-6933

[8] Multiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease [J].

Fahy, E ;

Nazarbaghi, R ;

Zomorrodi, M ;

Herrnstadt, C ;

Parker, WD ;

Davis, RE ;

Ghosh, SS .

NUCLEIC ACIDS RESEARCH, 1997, 25 (15) :3102-3109

[9] Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication [J].

Michikawa, Y ;

Mazzucchelli, F ;

Bresolin, N ;

Scarlato, G ;

Attardi, G .

SCIENCE, 1999, 286 (5440) :774-779

[10] Aging research - Do mitochondrial mutations dim the fire of life? [J].

Pennisi, E .

SCIENCE, 1999, 286 (5440) :664-664