| Abstract [eng] |
Energy homeostasis and different muscle contraction properties demands for interactive processes of diverse specialty enzymes, including important reactions of enzymes-regulators – adenosine monophosphate deaminase 1 (encoded by AMPD1 gene) and muscle-specific creatine kinase (encoded by CKM gene), in the human body during the physical activity. This research aims to analyse the effect of CKM (c.*800A >G, rs8111989) and AMPD1 (c.133C >T, p.Gln45Ter, rs17602729) gene polymorphisms on physical capacities of Lithuanian elite athletes. The study involved 150 Lithuanian elite athletes (60 females and 90 males, Olympic candidates, World’ and European Olympic medallists) and 150 controls (60 females and 90 males, healthy unrelated citizens of Lithuania without any competitive sport experience). The athletes were prospectively stratified into three groups according to the event duration and distance, spanning a spectrum from the endurance-oriented to the poweroriented athletes: ‘endurance group’ (n = 63), ‘sprint/power group’ (n = 65) and “mixed” (n = 22), sports utilized anaerobic and aerobic energy production). Physical (anthropometric) measurements (height, weight, muscle mass and fat mass, body mass index (BMI)) and indices of functional capacity (anaerobic muscle strength based on right and left hands grip strength, short-term explosive muscle power (STEMP), anaerobic alactic muscle power (AAMP) and aerobic capacity based on maximum oxygen uptake (VO2max)) were determined for athletes. For molecular genetic analysis, DNA was extracted from blood leukocytes using standard phenolchloroform method. Two different strategies were used for CKM and AMPD1 polymorphisms genotyping: CKM polymorphism genotyping was performedby allelic discrimination technology based real-time polymerase chain reaction and AMPD1 polymorphism – by restriction fragment length polymorphism method. Phenotypic analysis showed that mean values of physical measurements and functional capacity indices (except height, weight, muscle and fat mass) were significantly different between sport groups and were specific to each group (p < 0.05). Case-control association analysis showed no significant differences in allele/genotype frequency distributions of AMPD1 and CKM polymorphisms between the sport groups. However, significant differences were found when sport groups were further divided according to gender. There were significantly more male sprint/power athletes with the CKM AG genotype and rarely homozygous (AA, GG) genotypes compared to females in the same sports group. We determined association between STEMP and CKM polymorphism genotypes – in sprint/power group AA and AG genotype harboring athletes had significantly higher STEMP values than athletes with GG genotype (p = 0.005). Analysis of AMPD1 polymorphism revealed that endurance group males with CC genotype had significantly lower values of AAMP than the heterozygous (CT) athletes of the same group (p = 0.04). Also, CC genotype carrying endurance female had significantly higher VO2max than CT genotype female VO2max (p = 0.01). Analysis of different phenotypic indices among Lithuanian elite athletes points out to specific physical adaptations that occurs in different specialty athletes. CKM (c.*800A>G) a ndAMPD1 (c.133C>T) genetic variants have different effect on male and female physical capacity. CKM AA and AG genotype confers ability to achieve better muscle efficiency in short-term, maximum-effort requiring physical activity and AMPD1 CC genotype athletes have better aerobic capacity. Our study approves the opinion of many sports and genetic scientists that sprint and power qualities are more effected by inheritance than the endurance qualities. |
