Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 5a Pawińskiego Street, 02-106 Warszawa, Poland.
Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Powstańców Wielkopolskich 72, 70-111 Szczecin, Poland.
Int J Mol Sci. 2023 Aug 20;24(16):12992. doi: 10.3390/ijms241612992.
Energy efficiency is one of the fundamental athletic performance-affecting features of the cell and the organism as a whole. Mitochondrial DNA (mtDNA) variants and haplogroups have been linked to the successful practice of various sports, but despite numerous studies, understanding of the correlation is far from being comprehensive. In this study, the mtDNA sequence and copy number were determined for 99 outstanding Polish male athletes performing in power (n = 52) or endurance sports (n = 47) and 100 controls. The distribution of haplogroups, single nucleotide variant association, heteroplasmy, and mtDNA copy number were analyzed in the blood and saliva. We found no correlation between any haplogroup, single nucleotide variant, especially rare or non-synonymous ones, and athletic performance. Interestingly, heteroplasmy was less frequent in the study group, especially in endurance athletes. We observed a lower mtDNA copy number in both power and endurance athletes compared to controls. This could result from an inactivity of compensatory mechanisms activated by disadvantageous variants present in the general population and indicates a favorable genetic makeup of the athletes. The results emphasize a need for a more comprehensive analysis of the involvement of the mitochondrial genome in physical performance, combining nucleotide and copy number analysis in the context of nuclear gene variants.
能量效率是细胞和整个生物体的基本运动表现影响特征之一。线粒体 DNA（mtDNA）变体和单倍型群与各种运动的成功实践有关，但尽管进行了大量研究，对相关性的理解还远远不够全面。在这项研究中，测定了 99 名杰出的波兰男性运动员的 mtDNA 序列和拷贝数，他们从事力量（n=52）或耐力运动（n=47），并与 100 名对照者进行了比较。分析了血液和唾液中的单倍型群分布、单核苷酸变异关联、异质性和 mtDNA 拷贝数。我们没有发现任何单倍型群、单核苷酸变异，尤其是罕见或非同义变异与运动表现之间存在相关性。有趣的是，研究组中的异质性较少，尤其是耐力运动员。与对照组相比，我们观察到力量和耐力运动员的 mtDNA 拷贝数均较低。这可能是由于不利变异在普通人群中激活的补偿机制不活跃所致，这表明运动员具有有利的遗传构成。研究结果强调需要更全面地分析线粒体基因组在身体表现中的参与，结合核基因变异背景下的核苷酸和拷贝数分析。
