title: Mitochondrial DNA variants in a Japanese population of patients with Alzheimer's disease.
abstract: 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.
authors.affiliation: Department of Biostatistics, Harvard School of Public Health, 655 Huntington Avenue, Boston, MA 02115, USA. nyamaguc@hsph.harvard.edu
authors.forename: Noriko
authors.initials: N
authors.lastname: Tanaka
authors.forename: Yu-ichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Jun
authors.initials: J
authors.lastname: Akanuma
authors.forename: Mayuko
authors.initials: M
authors.lastname: Kato
authors.forename: Toru
authors.initials: T
authors.lastname: Kinoshita
authors.forename: Fumio
authors.initials: F
authors.lastname: Yamashita
authors.forename: Masashi
authors.initials: M
authors.lastname: Tanaka
authors.forename: Takashi
authors.initials: T
authors.lastname: Asada
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000209:etiology / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics / Q000378:metabolism; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007564:Japan; D008297:Male; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D053327:Apolipoprotein E4; D004272:DNA, Mitochondrial