Drozdovska S. The physiological and molecular-genetic factors of physical performance in sport

Українська версія

Thesis for the degree of Doctor of Science (DSc)

State registration number

0516U000338

Applicant for

Specialization

  • 03.00.13 - Фізіологія людини і тварин

19-04-2016

Specialized Academic Board

Д 26.198.01

Bogomoletz Institute of Physiology National of science of Ukraine

Essay

The study of molecular mechanisms and patterns of adaptation to physical activity is the basis of enhancing physical performance and the actual problem of physiology and sports medicine. Physical performance in the sport is provided of wide range of phenotypic traits and depends on the effective combination of hereditary and environmental factors. Genetics has a great influence over components of the athletic performance such as strength, power, endurance, muscle fibre size and composition, flexibility, neuromuscular coordination, temperament and other phenotypes. Despite a relatively high heritability of athlete status, the search for genetic variants contributing to predisposition to success in certain types of sport has been a challenging task. Only the combined impact of certain genetic variants may explain individual variations manifestation of physical performance. Despite the great interest of scientists to this problem, a comprehensive approach to the use of molecular genetic markers in determining predisposition to high sports performance is not used.The aim was to create an algorithm for molecular genetic diagnostics of physical performance in sport by determining molecular genetic markers. The study involved 611 people, including 285 athletes of different sports and 326 persons without any competitive sport experience. Athletes Group was divided into three subgroups: I - endurance-orientedathletes (n = 110), II - speed / power-oriented athlets (n = 110), III - athletes engaged in sports with combined endurance and strength/speed (n = 65). Determination of physical performance was measured by maximum level of oxygen consumption (VO2max) and capacity of loading (Wmax) under test loads with incremental endurance, as well as intensity of loading at the level of anaerobic threshold (WThr). Treadmill "LЕ-200" (Germany) and rowing ergometer Concept - II (USA) were used for loading. Genomic DNA was isolated from oral epithelial cells .The Т-786-С polymorphism of the promoter of еNOS gene as well as I/D polymorphism of АСЕ gene, Рго/Ala polymorphism of PPARG gene, G/C polymorphism of PPARA gene, Pro582Ser polymorphism (C/T) of HIF1alfa gene, and Ala203Pro polymorphism of PPARGC1B gene G894 T polymorphism 7th exon (eNOS), G1355 A (Gly422 Ser) polymorphism (ELN), C/T-1306 polymorphism promoter (MMR2), A/A2 polymorphism (DRD2), R/X polymorphism (ACTN3) were identified using the method of polymerase chain reaction (PCR), with a subsequent analysis of the restriction length fragments. Analysis of the distribution frequency of genotypes and alleles of studied polymorphisms in groups of athletes and the control group suggests that the C1744 T gene polymorphism HIF1A, T-786 C polymorphism of eNOS gene promoter and Pro12 Ala PPARG gene polymorphism associated with the status of an athlete, reflecting the level of physical efficiency. The analysis of the obtained results has shown both single and combined effect of the gene polymorphisms on the aerobic capacity. I/D polymorphism of the ACE gene is associated with maximal aerobic power (p = 0,029), T/C polymorphism of eNOS gene associated with lung ventilation efficiency for utilization of O2 from the air (p = 0.04); G/C polymorphism gene PPARA associated with physical performance at the threshold of anaerobic metabolism (p = 0,009). Results showed that there is dependence between the amount the maximum volume of consumed oxygen (VO2max) from the set of gene polymorphisms. Cumulative impact of these polymorphisms in the combination with the individual parameters (gender; qualification; kind of sport) stipulates 71% of dispersion of VO2max value. The investigation of the circulatory adaptation features to physical load among athletes - rowers with different polymorphisms of genes showed that gene polymorphisms HIF1A, ACE and PPARG have the greatest influence on hemodynamic parameters in a state of relative muscular rest. Based on the study of functional performance of athletes with different genotypes and the level of expression of genes in different conditions, it was found that polymorphisms causing quantitative and qualitative changes of proteins, changes or loss of their functional activity, cause individual differences in physical performance and can be prognostic markers of susceptibility to the manifestation of its high level. The paper contains a list of genes whose products affect the processes of adaptation to intense muscular activity, and can act as molecular genetic markers as the development of physical qualities and physical performance as a whole. The author was installed features of the genomes of athletes from different sports. The algorithm of molecular genetic diagnostics determining hereditary predisposition to high physical performance in different sports, based on the analysis of polymorphisms of genes was created. Stages of definition, evaluation criteria, scoring system evaluation assessed value of each of polymorphisms in determining genetic predisposition to 7 selected sports were established (rowing, skiing, jumping, throwing, sprint, martial arts, sailing).

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