Relationship between Endurance Performance and Genetic Polymorphisms of Mitochondrial DNA in Korean Male Elite Athletes

It has been reported that endurance performance is influenced by various environmental and genetic factors. In view of an important role of human mitochondrial DNA (mtDNA) as a candidate for endurance performance, this study focused on the relationships between $VO_{2max}$ value as a measure of endurance performance or other associated phenotypes and four mtDNA restriction fragment length polymorphisms (RFLPs) (Bam HI, Hinc II1, Hinc II2 and Nci I) in the NADH dehydrogenase subunit 5 and one (Kpn I) in the D-loop region of mtDNA. MtDNA was purified from buffy coat in human peripheral blood, and PCR-RFLP analysis was performed to estimate the allele frequencies of each polymorphism in the mtDNA. There were no significant differences in allele distributions of all polymorphisms studied between male athletes and controls, respectively (P>0.05). However, the Kpn I polymorphism was significantly associated with diastolic blood pressure level in male athletes, respectively (P<0.05). Therefore, our results suggest that this polymorphism might be one of the factors modifying inter-individual difference in cardiovascular risk. Further studies using larger sample size will be required to generalize these results from the study described herein.