Mitochondrial Physiology Network 10.9: 20 (2005) - download pdf

Polymorphisms in the mtDNA hypervariable region related to individual difference in endurance performance.

Yun Chang¹, CL Yu², XL Gao¹, AJ Liu³

¹China Institute of Sports Science, Beijing 100061, P.R. China; ²Sports Medicine Institute of Peking University, ³China Canoe Team. - changyun2518@vip.sina.com

    It is well known that trainability of exercise widely differs from one person to another. The individual difference is evidently determined not only by environmental factors such as life-style and habitual meals, but also by genetic factors [1-2]. It is hypothesized that there are genes affecting endurance capacity and their responses to regular exercise. Searching the factors causing the individual difference is considered meaningful in terms of a more accurate prescription for how to forecast and evaluate the exercise capacity. The purpose of this study was to investigate whether the polymorphisms in the hypervariable region I of mitochondrial DNA (mtDNA HVR-I) related to individual difference in the aerobic capacity. 94 elite endurance athletes and 92 healthy controls participated in this study. The single nucleotide polymorphisms（SNPs）of mtDNA HVR-I and the VO₂max were determined. The relation between V_O2max and SNPs in the endurance athletes and their controls was analyzed. The polymorphism in the mtDNA HVR-I was decided based on the ‘Cambridge sequence’. The total numbers of SNPs of mtDNA HVR-I were 19 variable sites. The subjects were classified into two groups at each variable site, the Cambridge sequence group and the non-Cambridge sequence group. The results indicated that V_O2max/kg were significant difference between Cambridge and non-Cambridge sequence groups at nucleotide positions 16362, 16085, and 16297 (P<0.05). The male athletes with non-Cam sequence at nucleotide position 16297 has a significant lower V_O2max/kg, while the female athletes with non-Cam sequence at nucleotide positions 16362 and 16085 have significant lower V_O2max/kg. In contrast of endurance athletes, V_O2max of the healthy controls were difference between Cam and non-Cam sequence groups at nucleotide position 16298 (P<0.05), but after body weight revising, the difference of V_O2max/kg was not significant at this position. The controls with non-Cam sequence at nucleotide position 16219 has a significant lower V_O2max/kg (P<0.05). In conclusion, we suggest that several polymorphisms in mtDNA HVRⅠmay relate to individual differences in endurance capacity and trainability, as SNPs markers, nucleotide positions of 16298, 16129, 16362, 16085 and 16297 related to individual difference of human aerobic endurance and their trainability [3]. As a rare unique heteroplasmic SNPs site in the endurance athletes, nucleotide position 16085 obviously is an important gene marker. Those mtDNA markers are significant for forecasting and assessing the athletic capability.

1.    Perusse L, Rankinen T, Rauramaa R (2003) The human gene map for performance and health-related fitness phenotypes: the 2002 update. Med. Sci. Sports Exerc. 35: 1248-1264.

2.    Bouchard C, An P, Rice T, Skinner JS, Wilmore JH, Gagnon J, Pérusse L, Leon AS, Rao DC (1999) Familial aggregation of VO₂ max response to exercise training: results from the HERITAGE Family Study. J. Appl. Physiol. 87: 1003–1008.

3.    Murakami H, Soma R, Hayashi J-I, Katsuta S, Matsuda M, Ajisaka R, Okada M, Kuno S (2001) Relationship between mitochondrial DNA polymorphism and the individual differences in aerobic performance. Jpn. J. Physiol. 51: 563–568.