Relationship between Performance of Long Distance Runners and Nucleotide Polymorphisms of Mitochondrial DNA −SNPs in the ATP Synthase, Cytochrome b Genes and D-Loop−
【Supercategory：7. DESCENTE SPORTS SCIENCE Subcategory：7.24 Vol.24】
The purpose of this study was to identify mitochondrial polymorphisms associated with high endurance performance. We determined sequence of ATPase subunit 6 (ATP6),
ATPase subunit 8 (ATP8), cytochrome b, and D-loop sequences of mitochondrial DNA from elite runners (ER, n=31), non-elite runners (NER, n=108), other athletes (OA, n=43) and control (CON, n=112) by the direct sequencing method.
As a result of having compared frequency of gene polymorphism, as gene related to endurance performance, ATP6 was selected. In ATP6 gene, 59 single nucleotide polymorphisms (SNPs) were identified, and 31 of them were non-synonymous substitutions. The frequency of Mt8794C → T (His90Tyr) in the elite runners was significantly higher than that in other groups.
Cluster analysis of the ATP6 nucleotide sequences revealed that they could be classified into eight clusters. The proportion of runners in the members belonging to haplogroup VIII characterized by Mt8794C → T was significantly higher than that of runner in other individuals belonging to other haplogroups. These results suggest that Mt8794C → T (His90Tyr) is associated with high endurance performance.
DESCENTE SPORTS SCIENCE Vol.24/THE DESCENTE AND ISHIMOTO MEMORIAL FOUNDATION FOR THE PROMOTION SPORTS SCIENCE
ATPase subunit 8 (ATP8), cytochrome b, and D-loop sequences of mitochondrial DNA from elite runners (ER, n=31), non-elite runners (NER, n=108), other athletes (OA, n=43) and control (CON, n=112) by the direct sequencing method.
As a result of having compared frequency of gene polymorphism, as gene related to endurance performance, ATP6 was selected. In ATP6 gene, 59 single nucleotide polymorphisms (SNPs) were identified, and 31 of them were non-synonymous substitutions. The frequency of Mt8794C → T (His90Tyr) in the elite runners was significantly higher than that in other groups.
Cluster analysis of the ATP6 nucleotide sequences revealed that they could be classified into eight clusters. The proportion of runners in the members belonging to haplogroup VIII characterized by Mt8794C → T was significantly higher than that of runner in other individuals belonging to other haplogroups. These results suggest that Mt8794C → T (His90Tyr) is associated with high endurance performance.
DESCENTE SPORTS SCIENCE Vol.24/THE DESCENTE AND ISHIMOTO MEMORIAL FOUNDATION FOR THE PROMOTION SPORTS SCIENCE
| Researcher | Takeshi Takeyasu*1, Yuzo Sato*2, Yoshiharu Oshida*2, Fumihiro Yamasawa*3, Masashi Tanaka*4 |
|---|---|
| University or institution | *1 Nagoya University Graduate School of Medicine, *2 Nagoya University Research Center of Health, Physical Fitness, and Sports, *3 Marubeni Corporation, *4 Gifu International Institute of Biotechnology |
Keywords
mitochondrial polymorphisms, endurance performance, gene polymorphism