Mitochondrial DNA variation is associated with elite athletic status in the Polish population

Abstract

There is mounting evidence that genetic factors located in mitochondrial and nuclear genomes influence sport performance. Certain mitochondrial haplogroups and polymorphisms were associated with the status of elite athlete, especially in endurance performance. The aim of our study was to assess whether selected mitochondrial DNA (mtDNA) and nuclear DNA variants are associated with elite athlete performance in a group of 395 elite Polish athletes (213 endurance athletes and 182 power athletes) and 413 sedentary controls. Our major finding was that the mtDNA haplogroup H and HV cluster influence endurance performance at the Olympic/World Class level of performance (P = 0.018 and P = 0.0185, respectively). We showed that two polymorphisms located in the mtDNA control region were associated with achieving the elite performance level either in the total athlete's group as compared with controls (m.16362C, 3.8% vs 9.2%, respectively, P = 0.0025, odds ratio = 0.39, 95% confidence interval: 0.21-0.72), or in the endurance athletes as compared with controls (m.16080G, 2.35% vs 0%, respectively, P = 0.004). Our results indicate that mtDNA variability affects the endurance capacity rather than the power one. We also propose that mtDNA haplogroups and subhaplogroups, as well as individual mtDNA polymorphisms favoring endurance performance, could be population-specific, reflecting complex cross-talk between nuclear and mitochondrial genomes.

Current Progress in Sports Genomics

“…In addition, in four case-control studies, significantly lower frequency of 482Ser allele in Spanish (n ¼ 104), Russian (n ¼ 579), Israeli (n ¼ 74), and Polish (n ¼ 92) elite endurance-oriented athletes has been reported [30,133,148,149]. However, while Maruszak et al [116] and He et al [150] have not replicated the same results in 213 Polish and 235 Chinese endurance athletes, respectively, Tural et al [136] have shown an opposite association; that is, 60 Turkish endurance athletes had significantly lower frequency of the Gly482 allele than 110 controls. Additionally, He et al [150] in the study of Chinese athletes have revealed the prevalence of the A allele of the functionally relevant rs4697425 A/G polymorphism in 127 female endurance athletes in comparison with controls (but not in 194 male endurance athletes).…”

“…In a study of Finnish elite endurance athletes (n ¼ 52), an excess of mtDNA haplogroup H and the absence of haplogroup K and subhaplogroup J2 compared to 1060 controls and 89 sprinters was reported [115]. Maruszak et al [116] have also shown that haplogroup K was less prevalent in 130 male Polish endurance athletes than in 413 controls, while haplogroups H, HV, and m.16080G allele were overrepresented in elite endurance athletes compared with elite power athletes or controls. Haplogroup T was significantly less frequent among 95 Spanish elite endurance athletes in comparison with 250 healthy male population controls [117].…”

“…Norrbom et al [158] have shown that TFAM protein expression was significantly higher in the elite athletes than in the moderately active individuals. The rare 12Thr allele of the TFAM Ser12Thr polymorphism (rs1937 G/C) was found to be overrepresented in 588 Russian elite endurance athletes compared to 1113 controls [30,159], but not in 213 Polish endurance athletes [116].…”

The Crosstalk between the Gut Microbiota and Mitochondria during Exercise

“…Additionally, the European mitochondrial DNA haplogroup HV has been associated with decreased odds of severe sepsis, suggesting that mitochondrial haplotypes could determine survival rates during severe septic shock due to differences in its function (Baudouin et al, 2005; Lorente et al, 2012; Jiménez-Sousa et al, 2015), higher OXPHOS capacity as well as higher ROS and RONS production (Jiménez-Sousa et al, 2015). More specifically, Maruszak et al (2014) reported that Olympic athletes were primarily from the HV haplogroup, which has been associated with a higher VO 2 max in response to exercise coupled to more OXPHOS capacity and thus more aerobic ATP production, whereas a study in healthy male Spanish Caucasians ( n = 81) also demonstrated that the HV haplogroup was associated with higher ROS production and mitochondrial oxidative damage compared to the JT haplogroup (Martinez et al, 2010). …”

Assessment of Metabolic Flexibility by Means of Measuring Blood Lactate, Fat, and Carbohydrate Oxidation Responses to Exercise in Professional Endurance Athletes and Less-Fit Individuals

“…However, there are a paucity of data on energy substrate partitioning in elite professional endurance athletes (PAs). Studies on elite athletes are of interest because they express a robust muscle mitochondrial reticulum, perhaps due to genetic and epigenetic variations [7][8][9][10][11][12][13], which allows them to be metabolically flexible [5,6]. Therefore, PAs readily switch back and forth between lipid and CHO oxidation (CHOox), depending on energy demand and substrate availability at higher absolute workloads.…”