title: Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese.
abstract: Polymorphisms in the human mitochondrial genome have been used for the elucidation of phylogenetic relationships among various ethnic groups. Because analysis by mitochondrial genetics has detected pathogenic mutations causing mitochondrial encephalomyopathy or cardiomyopathy, most of the mitochondrial single nucleotide polymorphisms (mtSNPs) found in control subjects have been regarded as merely normal variants. However, we cannot exclude the possibility that the mitochondrial functional differences among individuals are ascribable at least in part to the mtSNPs of each individual. Human lifespan in ancient history was much shorter than that at the present time. Therefore, it is reasonable to speculate that certain mtSNPs that predispose one toward susceptibility to adult- or elderly-onset diseases, such as Parkinson's disease and Alzheimer's disease, have never been a target for natural selection in the past. Similarly, thrifty mtSNPs that had been advantageous for survival under severe famine or cold climate conditions might turn out to be related to satiation-related diseases, such as diabetes mellitus and obesity. To examine these hypotheses, we have constructed a mtSNP database by sequencing the entire mitochondrial genomes of 672 subjects: 96 in each of seven groups (i.e., centenarians, young obese or non-obese subjects, diabetic patients with or without major vascular involvement, patients with Parkinson's disease, and those with Alzheimer's disease).
authors.affiliation: Department of Gene Therapy, Gifu International Institute of Biotechnology, 1-1 Naka-Fudogaoka, Kakamigahara, Gifu 504-0838, Japan. mtanaka@giib.or.jp
authors.forename: Masashi
authors.initials: M
authors.lastname: Tanaka
authors.forename: Takeshi
authors.initials: T
authors.lastname: Takeyasu
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Fuku
authors.forename: Guo
authors.initials: G
authors.lastname: Li-Jun
authors.forename: Miyuki
authors.initials: M
authors.lastname: Kurata
mesh_terms: D001921:Brain / Q000502:physiology; D004272:DNA, Mitochondrial / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007564:Japan; D008017:Life Expectancy; D008297:Male; D008928:Mitochondria / Q000235:genetics* / Q000378:metabolism; D024101:Mitochondrial Proteins / Q000737:chemistry / Q000235:genetics; D009690:Nucleic Acid Conformation; D009765:Obesity / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D011487:Protein Conformation
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins