MITOCHONDRIAL-DNA SEQUENCE POLYMORPHISM, VO(2MAX), AND RESPONSE TO ENDURANCE TRAINING

Mitochondrial DNA sequence variation was determined in 46 sedentary yo ung adult males who took part in ergocycle endurance training programs in two laboratories to assess whether mitochondrial DNA variants were associated with individual differences in maximal oxygen uptake (VO2m ax) and its response to training. VO2max was obtained from a progressi ve ergocycle test to exhaustion. White blood cell mitochondrial DNA wa s characterized with the restriction fragment length polymorphism (RFL P) technique using 22 restriction enzymes and human mitochondrial DNA as a probe for hybridization. Multiple mitochondrial DNA variants were detected with 15 of the enzymes. Some subjects exhibited many RFLPs, while others showed no variation. These RFLPs (morphs) were generated by base substitutions located in gene regions coding for mitochondrial proteins as well as in the noncoding regions. Carriers of three mitoc hondrial DNA morphs. two in the subunit 5 of the NADH dehydrogenase ge ne and one in the tRNA for threonine. had a VO2max (ml.kg-1, min-1) in the untrained state significantly higher than noncarriers, while carr iers of one mitochondrial DNA morph in subunit 2 of NADH dehydrogenase had a lower initial VO2max. Endurance training increased VO2max by a mean of 0.5 1 of O2, with individual differences ranging from gains of 0.06 to 1.03. After adjustment for training site and initial VO2max, a lower response was observed for three carriers of a variant in subun it 5 of the NADH dehydrogenase detected with HincII (mean gain of 0.28 1: P < 0.05). These results suggest that sequence variation in mitoch ondrial DNA may contribute to individual difference in VO2max and its response to training.