Mitochondrial DNA variants in a Japanese population of patients with Alzheimer's disease

被引：38

作者：

Tanaka, Noriko ^{[1
,2
]}

Goto, Yu-ichi ^{[2
]}

Akanuma, Jun ^{[2
]}

Kato, Mayuko ^{[2
]}

Kinoshita, Toru ^{[2
]}

Yamashita, Fumio ^{[2
]}

Tanaka, Masashi ^{[3
]}

Asada, Takashi ^{[4
]}

机构：

[1] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA

[2] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Kodaira, Tokyo 1878502, Japan

[3] Tokyo Metropolitan Inst Gerontol, Dept Genom Longev & Hlth, Itabashi Ku, Tokyo 1730015, Japan

[4] Univ Tsukuba, Inst Clin Med, Dept Neuropsychiat, Tsukuba, Ibaraki 3058571, Japan

来源：

MITOCHONDRION | 2010年 / 10卷 / 01期

关键词：

mtDNA; Alzheimer disease; Rare variant; Association study; APOE; Sequencing; APOLIPOPROTEIN E4; MTDNA HAPLOGROUPS; OXIDATIVE DAMAGE; TRANSGENIC MICE; MUTATIONS; BRAIN; INSULIN; EXPRESSION; GENOME; TRANSCRIPTION;

D O I：

10.1016/j.mito.2009.08.008

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The evidence for the role of mitochondria in Alzheimer's disease (AD) has been well investigated, based on the amyloid hypothesis and its relation to the mitochondrial dysfunction due to oxidative stress. However, contrasting reports describe an unclear picture on the relationship between AD and mitochondrial DNA (mtDNA) variations. Therefore, we analyzed complete mtDNA sequences from 153 AD patients and 129 normal control subjects to determine if inherited mtDNA polymorphisms or rare variants, or both contribute to the etiology of late-onset AD. The results reported herein indicate that inherited mtDNA common polymorphisms could not be the single major causes of AD but that some rare variants in the protein-coding-region may have protective effects for high-risk populations with the APOE e4 allele. Furthermore, our results support the idea that the np956-965 poly-c insertion and 856A>G variant might be a riskfactor for AD. (C) 2009 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

引用

页码：32 / 37

页数：6

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