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
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 50 条
  • [1] Heteroplasmic point mutations in the human mtDNA control region
    Bendall, KE
    Macaulay, VA
    Baker, JR
    Sykes, BC
    AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 59 (06) : 1276 - 1287
  • [2] Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication
    Michikawa, Y
    Mazzucchelli, F
    Bresolin, N
    Scarlato, G
    Attardi, G
    SCIENCE, 1999, 286 (5440) : 774 - 779
  • [3] Investigations on the point mutations at nt 5460 of the mtDNA in different neurodegenerative and neuromuscular diseases
    Janetzky, B
    Schmid, C
    Bischof, F
    Frolich, L
    Gsell, W
    Kalaria, RN
    Riederer, P
    Reichmann, H
    EUROPEAN NEUROLOGY, 1996, 36 (03) : 149 - 153
  • [4] mtDNA mutations and common neurodegenerative disorders
    Howell, N
    Elson, JL
    Chinnery, PF
    Turnbull, DM
    TRENDS IN GENETICS, 2005, 21 (11) : 583 - 586
  • [5] Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication
    Coskun, PE
    Beal, MF
    Wallace, DC
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (29) : 10726 - 10731
  • [6] Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging
    Pallotti, F
    Chen, X
    Bonilla, E
    Schon, EA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 59 (03) : 591 - 602
  • [7] Mutations in the cardiac mtDNA control region associated with cardiomyopathy and aging
    Marin-Garcia, J
    Goldenthal, MJ
    MOLECULAR BIOLOGY OF THE CELL, 2001, 12 : 386A - 386A
  • [8] Compilation of human mtDNA control region sequences
    Handt, O
    Meyer, S
    von Haeseler, A
    NUCLEIC ACIDS RESEARCH, 1998, 26 (01) : 126 - 129
  • [9] The mutation rate in the human mtDNA control region
    Siguroardóttir, S
    Helgason, A
    Gulcher, JR
    Stefansson, K
    Donnelly, P
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (05) : 1599 - 1609
  • [10] Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains
    Wei, Wei
    Keogh, Michael J.
    Wilson, Ian
    Coxhead, Jonathan
    Ryan, Sarah
    Rollinson, Sara
    Griffin, Helen
    Kurzawa-Akinibi, Marzena
    Santibanez-Koref, Mauro
    Talbot, Kevin
    Turner, Martin R.
    McKenzie, Chris-Anne
    Troakes, Claire
    Attems, Johannes
    Smith, Colin
    Al Sarraj, Safa
    Morris, Christopher M.
    Ansorge, Olaf
    Pickering-Brown, Stuart
    Ironside, James W.
    Chinnery, Patrick F.
    ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2017, 5 : 13