Association of muscle-specific creatine kinase (CKMM) gene polymorphism with physical performance of athletes

Abstract

The energy supply for muscle activity is one of the factors that determine human physical performance. Therefore, identification of genetic markers determin ing the efficiency of the adenosine triphosphate (ATP) resynthesis pathway is one of the priority trends in phys iology and genetics. For reaching the elite status, an athlete must have certain physical qualities greatly depending on genetic characteristics.During physical exercise, adenosine diphosphate (ADP) accumulates in contracting muscles triggering the creatine kinase mechanism of anaerobic ATP resynthesis, which provides rephosphorylation between creatine phosphate (CrP) and ADP (CrP + ADP -H + + Cr + ATP 2-, where Cr is creatine). The reaction is catalyzed by the muscle isoform of cre atine kinase (M CK), one of the key enzymes of energy supply for muscle performance.Within a cell, M CK is localized in the places of energy consumption: it is included in the M band of striated muscles and, together with myomesin, forms M bridges connecting myosin filaments with one another [1]. The protein is at the surface of myosin filaments in immediate proximity to actomyosin ATPase and is involved in the provision of the energy for the working myosin heads, supplying them with newly synthesized ATP in the course of muscle contraction [2]. M CK localized at the surface of the endoplasmic reticulum influences the power of muscle contraction by regulat ing the calcium ion flux during the tension and relax ation phases [3]. In addition, M CK, together with the mitochondrial creatine phosphokinase isoform, is involved in the transport of energy generated by oxida tive phosphorylation to muscular contraction proteins (the creatine phosphate shuttle) [4,5].Several studies have demonstrated that the inhibi tion of the M CK activity immediately reduces the intensity and power of muscle contractions [6-9] and results in enhanced oxygen uptake by the contracting muscles [10].The protein M CK is encoded by the CKMM gene localized in chromosome 19 (19q13.2-13.3). Ckmm knockout mice show an enhanced aerobic perfor mance and lower fatigability after long term physical activity [11].It may be supposed that M CK activity plays the key role in limitation of the possibility of performing long term physical exercise.The 3' untranslated region of the CKMM (OMIM: 123310) gene has been shown to have an A/G polymor phism (the substitution of guanine for adenine; rs8111989) [12], which may have an influence on the mRNA stability and change the gene expression [13]. It is believed that the A/G polymorphism is also associated with different M CK activities in myocytes [14,15].Abstract-The distribution of allele and genotype frequencies of the muscle specific creatine kinase (CKMM) gene A/G polymorphism in athletes (n = 384) and control subjects (n = 1116) was investigated, and the interrelation between genotypes and aerobic capacity in boat race rowers (n = 85) was revealed. Genotyp ing was performed using restriction fragment length polymorphism (RFLP) analysis. The aerobic capacity (the ...

Comparison of Muscle-Specific Creatine Kinase (CK-MM) Gene Polymorphism (rs8111989) Among Professional, Amateur Athletes and Non-athlete Karatekas

“…The CKMM AA genotype was associated with high values of VO 2 max and this result showed that Iranian athletes and non-athletes had more endurance potential (4). As the G allele is the rare allele for the CKM-NcoI polymorphism, researchers have speculated that this allele is associated with a protective mechanism against muscle breakdown (15).…”

“…Especially, efficiency of the adenosine triphosphate (ATP) synthesizing resources seems to be important. In muscle tissues, the muscle isoform of creatine kinase (CKM) is a key enzyme of energy supply (2)(3)(4)(5). CK-MM is located at the surface of myosin filaments near actomyosin ATPase and is involved in the provision of the energy for the working myosin heads, supplying them with newly synthesized ATP in the course of muscle contraction (6).…”

Born to fight? Genetics and combat sports

“…Concerning allele frequency (Figure 2), from the studies analysed the following results were observed when combat sports athletes and controls were compared: (1) ACTN3 -no difference for the three studies that investigated it (Kikuchi et al, 2012;Kikuchi et al, 2013;Rodríguez-Romo et al, 2013); (2) ACE -two studies reported difference between the athletes and the control groups (Cieszczyk et al, 2010;Kikuchi et al, 2012); (3) PPARα -one observed higher frequency (Cieszczyk et al, 2011), but the other did not (Ahmetov et al, 2006); (4) CKM -one found a higher frequency (Fedotovskaya et al, 2013).…”

“…A/G-alleles polymorphism frequencies A higher frequency of the CKM G-allele was found in the combined cohort of Polish and Russian athletes compared with controls Fedotovskaya et al (2013) * Competitive level as described in the original articles; PPARα = peroxisome proliferator-activated receptor α gene; ACE = angiotensin-converting enzyme gene; ACTN3 = alpha-actinin skeletal muscle isoform 3 gene; CKM = muscle-specific creatine kinase gene; Hardy-Weinberg equilibrium was met in all studies for all groups investigated; judo and wrestling = grappling combat sport; boxing = striking combat sport. genes in combat sport athletes and controls.…”

“…Artes Marciales Asiát., 9(1), 1-8 ~ 2014 Fedotovskaya et al (2013) explained their findings (i.e., higher CKM G allele in combat sports compared to controls) by affirming that power and strength are important determinants of success in combat sports and that this genetic profile would be an advantage for these athletes.…”