ACTN3/ACE GENOTYPES AND MITOCHONDRIAL GENOME IN PROFESSIONAL SOCCER PLAYERS’ PERFORMANCE

Two nuclear genes, ACTN3, encoding for the -actinin skeletal muscle isoform 3, and ACE, encoding for the angiotensin converting enzyme, have been both associated with quantitative physical performance traits in the general population. The purpose of our study was to assess the association between the two nuclear gene variants, R577X (rs1815739) in ACTN3 and I/D (rs4340) in ACE, with elite athletes’ performance and the effect of training on the mitochondrial DNA (mtDNA) content in peripheral blood. We evaluated the genotypes and frequencies of ACTN3 R577X and ACE I/D polymorphisms between soccer players (n = 43) and non-athletic healthy controls (n = 128). Total DNA was extracted using standard procedure from peripheral blood samples. The genotypes were assessed by PCR-RFLP analysis and mtDNA cellular content by RT-PCR. Soccer players showed a tendency to prevalence of ACTN3RR and ACEDD genotypes either independently and in the co-occurrence. The effect of physical training on the mitochondrial DNA content in athletic population was strikingly reflected on its increase in peripheral blood. Based on our results we suggest that the analysis of ACTN3 and ACE genotypes could outline the talent in soccer field and that the knowledge of the genetic variants could drive types and training times of the soccer players. In addition, the novelty of this work, never described before in the sports literature, is that the increase of mitochondria content can be correlated with the training load suggesting that mtDNA copy number may be considered a viable bioenergetics biomarker.