ABSTRACT
Muscle-specific creatine kinase (CKMM) plays a vital role in the energy homeostasis of muscle cells. The A/G variation (rs8111989) located in the 3'-untranslated region of the CKM gene has been found to be the most relevant in terms of genetic testing in sport. The aim of the presented study was to test the hypothesis that the G allele might represent a genetic element that contributes to the improvement of endurance performance in Polish and Russian rowers. The distribution of the CKM genotypes was examined in a group of Polish and Russian athletes in comparison with non-athlete controls. There were no statistical differences between the rowers and the control groups across the CKM genotypes when Polish or Russian participants were analyzed. Based on the obtained results, it may be speculated that the CKM A/G polymorphism is not an important determinant of endurance performance level in Polish and Russian rowers. However, these results should be interpreted with caution as they can be limited by many factors.
Subject(s)
3' Untranslated Regions , Creatine Kinase, MM Form/genetics , Physical Endurance/physiology , Polymorphism, Genetic , Adult , Athletes , Humans , Male , Poland , RussiaABSTRACT
Exercise-induced oxidative stress is a state that primarily occurs in athletes involved in high-intensity sports when pro-oxidants overwhelm the antioxidant defense system to oxidize proteins, lipids, and nucleic acids. During exercise, oxidative stress is linked to muscle metabolism and muscle damage, because exercise increases free radical production. The T allele of the Ala16Val (rs4880 C/T) polymorphism in the mitochondrial superoxide dismutase 2 (SOD2) gene has been reported to reduce SOD2 efficiency against oxidative stress. In the present study we tested the hypothesis that the SOD2 TT genotype would be underrepresented in elite athletes involved in high-intensity sports and associated with increased values of muscle and liver damage biomarkers. The study involved 2664 Caucasian (2262 Russian and 402 Polish) athletes. SOD2 genotype and allele frequencies were compared to 917 controls. Muscle and liver damage markers [creatine kinase (CK), creatinine, alanine transaminase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP)] were examined in serum from 1444 Russian athletes. The frequency of the SOD2 TT genotype (18.6%) was significantly lower in power/strength athletes (n = 524) compared to controls (25.0%, p = 0.0076) or athletes involved in low-intensity sports (n = 180; 33.9%, p < 0.0001). Furthermore, the SOD2 T allele was significantly associated with increased activity of CK (females: p = 0.0144) and creatinine level (females: p = 0.0276; males: p = 0.0135) in athletes. Our data show that the SOD2 TT genotype might be unfavorable for high-intensity athletic events.
Subject(s)
Exercise/physiology , Muscle, Skeletal/enzymology , Physical Endurance/genetics , Superoxide Dismutase/genetics , Cohort Studies , Creatine Kinase/blood , Female , Genotype , Humans , Male , Oxidative Stress/physiology , Polymorphism, Genetic , Superoxide Dismutase/metabolism , Young AdultABSTRACT
Physical activity phenotypes are highly poligenic. Skeletal muscle-specific AMP deaminase isoform, encoded by AMPD1 gene, is stimulated after short-term highly intense exercise and is an important regulator of muscular energy metabolism in exercise. Analysis of restriction fragment length polymorphisms detected much lesser frequency of AMPD1 allele T and genotype TT in athletes engaged in the high-speed and strength sports (N=305) in comparison with humans practicing no sports (N=499). Hence, AMPD1 gene polymorphism C34T can be considered as a marker of liability to the high-speed and strength muscular activity.
