The control region of mitochondrial DNA (mtDNA) is about 1.1 kb long in human, containing the origin of replication for the H-strand, the promoters for H- and L-strand transcription, and the binding site of mitochondrial transcription factor A. Certain polymorphisms in this region would, therefore, contribute to elite athletic performance, because mitochondrial function is one of determinants for physical performance. The present study was undertaken to examine the effect of polymorphisms in this region on elite athlete status from whole sequencing of the control region in mtDNA. 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 (m.16024-16569 plus m.1-576 = 1,122-bp) was analyzed by direct sequencing. Frequency differences of polymorphisms (minor allele frequency >5%) in the mtDNA control region between EMA, SPA and CON were examined. EMA displayed excess of three polymorphisms [m.152T>C, long m.514(CA)n repeat (n.5), and extended poly-C stretch (C.7) at m.568-573] compared with CON. On the other hand, SPA showed greater frequency of the m.204T>C polymorphism compared with CON. These findings suggest that several polymorphisms detected in the control region of mtDNA may influence physical performance due to changes in transcription and replication of mtDNA.
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