Balkan Journal of Medical Genetics

PRELIMINARY FINDINGS OF α-ACTININ-3 GENE DISTRIBUTION IN ELITE TURKISH WIND SURFERS
Ulucan K1, Göle S1, Altindas N2, Güney AI3
*Corresponding Author: Dr. Korkut Ulucan, Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Üsküdar University, Altunizade Mahallesi, Haluk Turksoy Sok., No. 14 Uskudar, Istanbul 34662, Turkey; +90-216-400-2222-2409, +90-216-474-1256; korkutulucan@hotmail.com
page: 69

INTRODUCTION

α-Actinin-3 (ACTN3) is one of the most examined and discussed structural gene in sports science. This gene codes for the major and important structural proteins that are located within sarcomeric Z lines, there they anchor actin filaments, maintain myofibrillar arrays and have roles in signaling functions [1,2]. The mononucleotide transition at position 1747 (C>) in the ACTN3 coding sequence leads to the change of amino acid arginine (R) to a stop codon (X) in codon 577 (R577X), producing a short form of protein. The short form of the protein does not contribute to any known disease, and over 1 billion people are considered to have the mutant genotype [3]. Yang et al. [4] first reported the evidence of ACTN3 influence on elite athletic performance. They associated the ACTN3 R allele and RR genotype with top-level and power-orientated athletic performance and also hypothesized that total deficiency of the ACTN3 protein may confer some beneficial effect on endurance performance. The presence of the R allele in high power muscle contraction was also reported by Delmonico et al. [5]. In this report, we analyzed the ACTN3 genotype distribution in elite Turkish wind surfers, who represented the National Team and won gold medals in the last 3 years. We tried to find out the association between allelic types of the ACNT3 gene in elite wind surfers.

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