Muscle-specific creatine kinase gene polymorphism and ??VO2max in the HERITAGE Family Study

Abstract

This study examined the association between a DNA polymorphism in the muscle-specific creatine kinase (CKMM) gene and VO2max in the sedentary state, as well as its response (deltaVO2max) to a standardized 20-wk endurance training program. The subjects were 160 biologically unrelated Caucasian parents (80 women, 80 men) and 80 biologically unrelated adult offspring of the HERITAGE Family Study. The CKMM polymorphism was detected by PCR and digestion with the NcoI restriction enzyme. VO2max was measured during maximal cycle ergometer tests. VO2max was 2119 +/- 45 mL x min(-1) (mean +/- SE) or 26 +/- 0.4 mL x kg(-1) x min(-1). Both sexes had a significant (P < 0.05) increase in the deltaVO2max (women = 283 +/- 20 mL x min[-1] and men = 363 +/- 25 mL x min[-1]). Allele and genotype frequencies were not significantly different (P > 0.05) between sexes. Age and sex adjusted VO2max was significantly (P = 0.007) associated with the CKMM genotype in the parents, whereas no association (P > 0.05) was observed in the offspring. DeltaVO2max values adjusted for age, sex, VO2max, and body mass were characterized by genotype differences in both parents (P = 0.0004) and offspring (P = 0.0025). A significantly (P < 0.05) lower deltaVO2max to endurance training was detected in both parents and offspring homozygotes for the rare allele. The genotype accounted for at least 9% of the variance in deltaVO2max. These results indicate that the NcoI polymorphism in the 3' untranslated region of the muscle-specific creatine kinase gene is associated with the deltaVO2max to endurance training.

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

“…This SNP may have an influence on the mRNA stability and may change the gene expression (12). It is believed that the A/G polymorphism is also associated with different CK-MM activities in myocytes (13). The frequency of the minor G allele in this type of polymorphism varies in the range from 15% in the Chinese population to 29% -35% in Caucasians and 32% in white Americans (14)(15)(16).…”

Polimorfismos genéticos determinantes da performance física em atletas de elite

“…CK-MM is abundant in the skeletal muscle, keeping high ATP concentration in the head region of the myosin while the CK-MB has high activity in the cardiac muscle and lower activity in the skeletal muscle (67) . Although CK-MM is preferably expressed in the skeletal muscle, the activity of this enzyme showed to be at least two times lower in type I muscular fibers when compared with type II ones (64) . It is interesting that type I muscular fibers predominantly recruited in endurance activities and recognized by the predominance of oxidative enzymatic activity, present an inverse relation with the CK-MM activity.…”

“…Endurance training with sufficient intensity and duration induces increase in VO 2 max (64) . However, the interindividual differences involved in the ATP regeneration process as well as other metabolic ways potentially concerned with performance in endurance events, called attention for the genes tracking with possibility to affect such phenotype.…”

“…This variable defined as NcoI is located in the region 3' of the gene (70) . Rivera et al (64) , while testing the hypothesis of a relationship between the CK-M 985+185/1170 polymorphism and its influence in the VO 2 variable, submitted 240 individuals (80 fathers, 80 mothers and 80 children) to an endurance training program for 20 weeks. The frequency of the 985+185 and 1170 alleles was 0.3 and 0.7 respectively, for the fathers.…”

“…Nonetheless, the NcoI polymorphism analyzed is located in the region 3' of the gene, outside the coding region and the regulating region of the gene. For this reason, it is slightly probable that this mutation is the direct cause of the verified association (64) , suggesting thus, that this polymorphism would serve as a marker of the genetic difference (65) . Although the CK-MM is generally reported as the most active isoform, studies have verified high correlation between the increase of the CK-MB activity and oxidative capacity, estimated by the increase of the synthase citrate activity in the cardiac muscle (72) and in type I skeletal muscular fibers of individuals submitted to endurance training program (72) .…”