Evaluation in gene polymorphic α-ACTN3 at blumenau in individuals for better performance in sport

Background 3 a-actin (a-ACTN3) isoform is characteristic of fast fibers, expressed only in type II fibers, which plays structural and regulatory functions in cytoskeletal organization and muscle contraction. Stabilizes sarcomeres during fast and forceful contraction of muscle fibers used during sports activities that require explosion, such as race. Gene polymorphism was identified in the a-called ACTN3 R577X results in exchange of C to T at nucleotide position 1747 of exon 16, that is, a mutation resulting in the conversion of arginine (R allele) by premature termination codon (allele X) at amino acid 577. This change leads to lack expression of a-ACTN3 in individuals homozygous for the allele X, which supposedly causes decrease in muscle mass and affect the performance activities that require muscle contractions with high levels of strength and / or speed. The deficiency of a-ACTN3 does not result in a pathological phenotype as muscular dystrophy or myopathy. We analyzed the frequency and estimated genotype a-ACTN3 gene in individuals from Blumenau to guide them in the perfomance physical activity.