title: Polymorphisms in the control region of mitochondrial DNA associated with elite Japanese athlete status.
abstract: The control region of mitochondrial DNA (mtDNA) contains the main regulatory elements for mtDNA replication and transcription. Certain polymorphisms in this region would, therefore, contribute to elite athletic performance, because mitochondrial function is one of determinants of physical performance. The present study was undertaken to examine the effect of polymorphisms in this region on elite athlete status by sequencing the mtDNA control region. Subjects comprised 185 elite Japanese athletes who had represented Japan at international competitions (i.e., 100 endurance/middle-power athletes: EMA; 85 sprint/power athletes: SPA), and 672 Japanese controls (CON). The mtDNA control region was analyzed by direct sequencing. Frequency differences of polymorphisms (minor allele frequency ≥ 0.05) in the mtDNA control region between EMA, SPA, and CON were examined. EMA displayed excess of three polymorphisms [m.152T>C, m.514(CA)n repeat (n ≥ 5), and poly-C stretch at m.568-573 (C ≥ 7)] compared with CON. On the other hand, SPA showed greater frequency of the m.204T>C polymorphism compared with CON. In addition, none of the SPA had m.16278C>T polymorphism, whereas the frequencies of this polymorphism in CON and EMA were 8.3% and 10.0%, respectively. These findings imply that several polymorphisms detected in the control region of mtDNA may influence physical performance probably in a functional manner.
authors.affiliation: Graduate School of Sport Sciences, Waseda University, Saitama, Japan; Japan Society for the Promotion of Science, Tokyo, Japan; Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Mikami
authors.forename: N
authors.initials: N
authors.lastname: Fuku
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.forename: N
authors.initials: N
authors.lastname: Ohiwa
authors.forename: Y P
authors.initials: YP
authors.lastname: Pitsiladis
authors.forename: M
authors.initials: M
authors.lastname: Higuchi
authors.forename: T
authors.initials: T
authors.lastname: Kawahara
authors.forename: M
authors.initials: M
authors.lastname: Tanaka
mesh_terms: D056352:Athletes / Q000706:statistics & numerical data; D054874:Athletic Performance / Q000502:physiology*; D016022:Case-Control Studies; D004261:DNA Replication / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000502:physiology*; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D014158:Transcription, Genetic / Q000502:physiology
chemical_list: D004272:DNA, Mitochondrial