| Abstract [eng] |
Haemodynamic changes and hormonal milieu caused by physical exertion are strong stimuli for many organ systems. During sports competition and physical training, skeletal muscle, which ensures ability to move, are subjected to high workloads. However, they are characterized by high plasticity, which is reflected in the structural remodeling capabilities and enzyme systems ability to ensure effective body homeostasis during physical load. These processes depend on a coherent activity of many genes, whose expression is influenced during exercise. Single nucleotide polymorphisms, identified in the sequences of those genes, are considered one of the most promising genetic markers of physical capacity. In this study, we selected to investigate single nucleotide polymorphisms, which are located in the genes that affect muscle adaptation to physical loads: creatine kinase muscle subunit gene (CKM) polymorphism (c.*800A>G, rs8111989), muscle specific adenosine monophosphate deaminase gene (AMPD1) polymorphism (c.34C>T, rs17602729), myoglobin gene (MB) polymorphism (c.174G>A, rs7293), myostatin gene (MSTN) polymorphism (c.458A>G, rs1805086) and myosin phosphatase-Rho interacting protein gene (MPRIP) polymorphism (c.219+14693G>A, rs6502557). The products of CKM and AMPD1 genes take part in ATP homeostasis in muscle cells. Myoglobin, which is the product of MB gene, has two roles: intracellular oxygen transportation and formation of intracellular oxygen reserve. MSTN gene codes myostatin, which is a negative regulator of muscle growth. MPRIP gene product – myosin phosphatase Rho interacting protein. It is an important regulator of smooth muscle contractility. The aim of the study was to investigate the influence of selected genetic markers on the physical capacity properties of Lithuanian elite athletes. The study was conducted using 150 DNA samples of Lithuanian elite athletes (60 female and 90 male, mean age 28.6±6.9) and 257 DNA samples of healthy, unrelated, non-athletes controls (66 female and 191 male, mean age 32.5±6.9). We also obtained various phenotypic indices (height, weight, body mass index, fat mass, muscle mass, hand grip strength, short-term explosive muscle power, anaerobic alactic muscle power, maximal oxygen uptake) from the 109 investigated athletes (36 female and 73 male). Next, the whole athlete group was divided into 3 groups according to the specificity of sport: 1) aerobic capacity demanding sports group; 2) anaerobic capacity demanding sports group; 3) „mix“ group – sports group, which values aerobic and anaerobic capacity uniformly. Genotyping of AMPD1 and MB polymorphisms was performed by restriction fragment length polymorphism analysis method. Whereas, in the case of CKM, MSTN and MPRIP polymorphisms, genotypes were identified using real-time polymerase chain reaction. After performing statistical analysis of the distribution of allele and genotype frequencies by all investigated polymorphisms in the study groups (athletes and controls) and upon completing the comparison of phenotypic indices values between investigated polymorphisms genotype groups, we got the following results: 1) we determined CKM polymorphism A allele association with speed and strength properties in Lithuanian elite athletes; 2) we did not find AMPD1 polymorphism to be associated with any of the physical capacity property in Lithuanian elite athletes, but the C allele had more influence for female aerobic capacity than speed and strength properties; 3) we determined that MB polymorphism A allele is linked with male speed and strength properties and that athletes with G/A genotype have better anaerobic power capacity; 4) we were unable to thoroughly investigate MSTN polymorphism due to small G allele frequency in the studied groups; 5) we determined that MPRIP polymorphism A allele is linked with endurance properties, whereas athletes with G/A and G/G genotypes have better characteristics of anaerobic power. |
