期刊名称：Journal of Clinical Biochemistry and Nutrition
印刷版ISSN：0912-0009
电子版ISSN：1880-5086
出版年度：2000
卷号：28
期号：3
页码：191-199
DOI：10.3164/jcbn.28.191
出版社：The Society for Free Radical Research Japan
摘要：The human nuclear genome is now being extensively analyzed in search for single nucleotide polymorphisms (SNPs) that are useful for predicting susceptibility to various diseases. To identify SNPs associated with diseases or longevity in the human mitochondrial genome, we have started analyzing the entire sequences of mitochondrial DNA (mtDNA) from 576 individuals, including 96 centenarians, 96 patients with Parkinson's disease, 192 patients with diabetes mellitus with or without severe vascular complications, and 192 young adults with or without obesity. We are going to establish a database for SNPs in the human mitochondrial genome based on these analyses. We assume that the SNPs in the mitochondrial genome are functionally as important as those in the nuclear genome. We hypothesize that the functional property of mitochondria of an individual is genetically influenced by a combination of common, rare, and individual variations in their mtDNA. The construction of human mtDNA database will provide important information for developing an efficient multiplex analysis system for SNPs to predict longevity or susceptibility to age-associated diseases.
关键词：mitochondrial DNA;longevity;Parkinson's disease;centenarian;cytochrome b
