mtDNA mutations and common neurodegenerative disorders

被引:58
作者
Howell, N
Elson, JL
Chinnery, PF
Turnbull, DM [1 ]
机构
[1] Newcastle Univ, Sch Med, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
[2] Migenix Corp, San Diego, CA 92130 USA
[3] Univ Texas, Med Branch, Dept Radiat Oncol, Galveston, TX 77550 USA
基金
英国惠康基金;
关键词
D O I
10.1016/j.tig.2005.08.012
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The incidence and prevalence of Alzheimer's disease (AD) and Parkinson's disease (PD) are increasing as the population ages. Both disorders have been associated with oxidative stress and mitochondrial dysfunction, and it has been proposed that mutations in the mitochondrial genome have a key role in neurodegeneration in AD and PD patients. Two recent publications propose that heteroplasmic mtDNA mutations are involved in AD and PD. However, when these new studies are considered in relation to the sum of previous evidence, the role of mtDNA mutations in the development of either AD or PD still remains to be established.
引用
收藏
页码:583 / 586
页数:4
相关论文
共 28 条
[1]   The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool [J].
Achilli, A ;
Rengo, C ;
Magri, C ;
Battaglia, V ;
Olivieri, A ;
Scozzari, R ;
Cruciani, F ;
Zeviani, M ;
Briem, E ;
Carelli, V ;
Moral, P ;
Dugoujon, JM ;
Roostalu, U ;
Loogväli, EL ;
Kivisild, T ;
Bandelt, HJ ;
Richards, M ;
Villems, R ;
Santachiara-Benerecetti, AS ;
Semino, O ;
Torroni, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (05) :910-918
[2]   Cytoplasmic transfer of platelet mtDNA from elderly patients with Parkinson's disease to mtDNA-less HeLa cells restores complete mitochondrial respiratory function [J].
Aomi, Y ;
Chen, CS ;
Nakada, K ;
Ito, S ;
Isobe, K ;
Murakami, H ;
Kuno, SY ;
Tawata, M ;
Matsuoka, R ;
Mizusawa, H ;
Hayashi, JI .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2001, 280 (01) :265-273
[3]   Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia [J].
Autere, J ;
Moilanen, JS ;
Finnilä, S ;
Soininen, H ;
Mannermaa, A ;
Hartikainen, P ;
Hallikainen, M ;
Majamaa, K .
HUMAN GENETICS, 2004, 115 (01) :29-35
[4]  
Chagnon P, 1999, AM J MED GENET, V85, P20, DOI 10.1002/(SICI)1096-8628(19990702)85:1<20::AID-AJMG6>3.0.CO
[5]  
2-K
[6]   Point mutations of the mtDNA control region in normal and neurodegenerative human brains [J].
Chinnery, PF ;
Taylor, GA ;
Howell, N ;
Brown, DT ;
Parsons, TJ ;
Turnbull, DM .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (02) :529-532
[7]   Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication [J].
Coskun, PE ;
Beal, MF ;
Wallace, DC .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (29) :10726-10731
[8]   Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process [J].
Danielson, SR ;
Carelli, V ;
Tan, GL ;
Martinuzzi, A ;
Schapira, AHV ;
Savontaus, ML ;
Cortopassi, GA .
BRAIN, 2005, 128 :1026-1037
[9]   Increased risk of dementia in mothers of Alzheimer's disease cases: Evidence for maternal inheritance [J].
Edland, SD ;
Silverman, JM ;
Peskind, ER ;
Tsuang, D ;
Wijsman, E ;
Morris, JC .
NEUROLOGY, 1996, 47 (01) :254-256
[10]  
Ehrenkrantz D, 1999, AM J MED GENET, V88, P378, DOI 10.1002/(SICI)1096-8628(19990820)88:4<378::AID-AJMG15>3.0.CO