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.
Scand J Med Sci Sports. 2013 Oct;23(5):593-9. doi: 10.1111/j.1600-0838.2011.01424.x. Epub 2012 Jan 31.
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.
线粒体 DNA（mtDNA）的控制区包含 mtDNA 复制和转录的主要调节元件。因此，该区域的某些多态性可能会对精英运动员的表现产生影响，因为线粒体功能是身体表现的决定因素之一。本研究通过对 mtDNA 控制区进行测序，研究了该区域的多态性对精英运动员身份的影响。研究对象包括 185 名代表日本参加国际比赛的日本精英运动员（即 100 名耐力/中功率运动员：EMA；85 名短跑/力量运动员：SPA）和 672 名日本对照（CON）。通过直接测序分析 mtDNA 控制区。在 mtDNA 控制区中，对 EMA、SPA 和 CON 之间多态性（次要等位基因频率≥0.05）的频率差异进行了检验。与 CON 相比，EMA 显示出三种多态性的过剩[m.152T>C、m.514（CA）n 重复（n≥5）和 m.568-573 处的多聚 C 延伸（C≥7）]。另一方面，与 CON 相比，SPA 显示出更高频率的 m.204T>C 多态性。此外，SPA 中没有 m.16278C>T 多态性，而 CON 和 EMA 中的频率分别为 8.3%和 10.0%。这些发现表明，mtDNA 控制区中检测到的几种多态性可能以某种功能方式影响身体表现。
