Polymorphisms in the control region of mitochondrial DNA associated with elite Japanese athlete status

E. Mikami, N. Fuku*, H. Takahashi, N. Ohiwa, Y. P. Pitsiladis, M. Higuchi, T. Kawahara, M. Tanaka

*Corresponding author for this work

Research output: Contribution to journalJournal articlepeer-review

16 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)593-599
Number of pages7
JournalScandinavian Journal of Medicine and Science in Sports
Issue number5
Early online date31 Jan 2012
Publication statusPublished - Oct 2013

Scopus Subject Areas

  • Orthopedics and Sports Medicine
  • Physical Therapy, Sports Therapy and Rehabilitation

User-Defined Keywords

  • Case-control study
  • Control region
  • Elite athlete
  • mtDNA
  • Physical performance
  • Polymorphism


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