BamHI POLYMORPHISM IN MITOCHONDRIAL DNA (mtDNA) AND AEROBIC PERFORMANCE IN THE HERITAGE STUDY 1104

This study describes the association between a BamHI polymorphism located in the subunit 5 of the NADH dehydrogenase gene of mtDNA, ˙VO2 max, and its response to a standardized 20-week endurance training program. Fiftyeight adult females and 55 males of Caucasian descent (52 ± 5 yrs, mean ± SD) of the HERITAGE Project (MSSE 27:721, 1995) took part in the study. mtDNA was extracted and amplified between bp13176 and 13729 by PCR and digested with the restriction endonuclease BamHI. ˙VO2max was measured during maximal stationary cycle ergometer tests. Initial˙VO2max values were 2.11 ± 0.61 L·min-1 or 26.2±5.8 ml/kg·min-1 while the increment with training reached 0.32 ± 0.21 L·min-1. Seventeen subjects (15%) carried a mutation at the restriction site (BamHI-morph 3). There was no gender difference in the frequency of the mutation. No associations were found between the BamHI polymorphism and ˙VO2max (L·min-1 and ml/kg·min-1) values before, after or in response to training. There was no difference between high (>90th%ile) and low(<10th%ile) responders in terms of mutation frequency for any of the phenotypes. These results do not replicate the findings of a previous study(MSSE 23:177, 1991) and suggest the need for further research on the significance of this particular mutation for aerobic performance, if any.