Abstract
BackgroundWe have previously suggested that some of the mutations defining mitochondrial DNA (mtDNA) haplogroups J and K produce an uncoupling effect on oxidative phosphorylation and thus are detrimental for elite endurance performance. Here, the association between haplogroups J and K and physical performance was determined in a population-based cohort of 1036 Finnish military conscripts.ResultsFollowing a standard-dose training period, excellence in endurance performance was less frequent among subjects with haplogroups J or K than among subjects with non-JK haplogroups (p = 0.041), and this finding was more apparent among the best-performing subjects (p < 0.001).ConclusionsThese results suggest that mtDNA haplogroups are one of the genetic determinants explaining individual variability in the adaptive response to endurance training, and mtDNA haplogroups J and K are markers of low-responders in exercise training.
Highlights
We have previously suggested that some of the mutations defining mitochondrial DNA haplogroups J and K produce an uncoupling effect on oxidative phosphorylation and are detrimental for elite endurance performance
Growing evidence suggests that mitochondrial DNA (mtDNA) haplogroups have an influence on physical performance in Kiiskilä et al BMC Genomics (2021) 22:75 athletes [12,13,14,15,16], the association between elite performance and haplogroup has not been consistent across studies
Mitochondrial DNA haplogroups J and K were determined in a population-based cohort of 1036 military conscripts
Summary
We have previously suggested that some of the mutations defining mitochondrial DNA (mtDNA) haplogroups J and K produce an uncoupling effect on oxidative phosphorylation and are detrimental for elite endurance performance. The association between haplogroups J and K and physical performance was determined in a population-based cohort of 1036 Finnish military conscripts. At least 97 genes in nuclear or mitochondrial genomes have been identified to affect VO2 max trainability [3], and variation in mitochondria-related genes is associated with exercise response phenotypes [4]. Growing evidence suggests that mtDNA haplogroups have an influence on physical performance in Kiiskilä et al BMC Genomics (2021) 22:75 athletes [12,13,14,15,16], the association between elite performance and haplogroup has not been consistent across studies. Differences in ethnic background of the athletes and differences in sport disciplines used for participant selection may at least partly explain this inconsistency [17, 18]
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