Muscle-specific creatine kinase gene polymorphisms in elite endurance athletes and sedentary controls

Abstract

The purpose of this study was to investigate the association between elite endurance athlete (EEA) status and two restriction fragment length polymorphisms (RFLPs) at the muscle-specific creatine kinase (CKMM) gene locus. Genomic DNA was extracted from white blood cells or lymphoblastoid cell lines of 124 unrelated Caucasian male EEA (VO2max > 73 mL.kg-1.min-1) and 115 unrelated Caucasian sedentary male controls (SCON). The genetic polymorphism at the CKMM locus was detected by the polymerase chain reaction and DNA digestion with the NcoI and TaqI restriction endonucleases. The allelic frequencies for the NcoI and TaqI RFLPs were not different (P > 0.05) between EEA and SCON subjects. The three expected genotypes for CKMM-NcoI (1170/1170 bp, 1170/985 + 185 bp, and 985 + 185/985 + 185 bp) and CKMM-TaqI (1170/1170 bp, 1170/1020 + 150 bp, and 1020 + 50/1020 + 150 bp) were observed in the EEA and SCON groups. These genotype frequencies were in Hardy-Weinberg equilibrium, but they were not significantly (P > 0.05) different between the EEA and SCON. A strong (P < 0.001) linkage disequilibrium was detected among the NcoI and TaqI RFLPs in both EEA and SCON. These findings indicate that the skeletal muscle CK-NcoI and CK-TaqI gene polymorphisms are not associated with the elite endurance athlete status.

Genetic polymorphisms influence runners’ responses to the dietary ingestion of antioxidant supplementation based on pequi oil (Caryocar brasiliense Camb.): a before-after study

“…Identification of alleles Hp *1F , Hp *1S , and Hp *2 was based on product analysis of three independent PCR. MnSOD, CAT, GPx-1, CK-MM, CRP, and MTHFR genotypes were determined by polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assays performed as described by Mitrunen et al [94] (MnSOD), Ukkola et al [134] (CAT), Zhao et al [147] (GPx-1), Rivera et al [113], Zhou et al [148,149] (CK), Suk et al [127] (CRP), and Yi et al [145] (MTHFR). DNA fragments containing I/D polymorphism in intron 16 of the ACE gene were amplified by PCR as previously described by Rigat et al [112], using DMSO (dimethyl sulfoxide) as recommended by Odawara et al [100], to avoid mistyping of the DD genotype.…”

Polymorphisms in Control Region of mtDNA Relates to Individual Differences in Endurance Capacity or Trainability.

“…Although numerous studies have reported a relationship between these two items [9][10][11][12][13][14], it remains controversial. Furthermore, mitochondrial DNA (mtDNA) [15,16], the creatine kinase gene [17][18][19] and the Na ϩ -K ϩ -ATPase ∂2 gene [20] have been studied as genes that may dictate individual differences in endurance capacity or trainability. mtDNA is a double-stranded, circular molecule of 16,569 bp within the mitochondria [21] and has many more polymorphisms than seen in nuclear DNA [22].…”

Relationship between Mitochondrial DNA Polymorphism and the Individual Differences in Aerobic Performance.

“…Particularly, genetic factors differ mainly because of the diversity of genes possessed by individuals. In recent years, several papers investigated the related genes to the individual difference in the effects of endurance training [5][6][7][8][9][10]. Previous studies have reported mitochondrial DNA (mtDNA) [5,7] 563…”

“…[8], and creatine kinase genes [9,10] as candidate genes involved in the individual differences in endurance capacity (ex., VO 2 max ) as well as its trainability (ex., the change of VO 2 max ) of endurance training.…”