Association of the ACTN3 R577X Polymorphism in Polish Power-Orientated Athletes

• Authors: Paweł Cięszczyk , Jerzy Eider , Magdalena Ostanek , Aleksandra Arczewska , Agata Leońska-Duniec , Stanisław Sawczyn , Krzysztof Ficek , Krzysztof Krupecki
• Languages of publication: EN

Abstracts

EN

Alpha-actinins are an ancient family of actin-binding proteins that play structural and regulatory roles in cytoskeletal organization. In skeletal muscle, α-actinin-3 protein is an important structural component of the Z disc, where it anchors actin thin filaments, helping to maintain the myofibrillar array. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in α-actinin-3 deficiency in XX homozygotes. Based on knowledge about the role of ACTN3 R557X polymorphism in skeletal muscle function, we postulated that the genetic polymorphism of ACTN3 could also improve sprint and power ability.We compared genotypic and allelic frequencies of the ACTN3 R557X polymorphism in two groups of men of the same Caucasian descent: 158 power-orientated athletes and 254 volunteers not involved in competitive sport.The genotype distribution in the group of power-oriented athletes showed significant differences (P=0.008) compared to controls. However, among the investigated subgroups of athletes, only the difference of ACTN3 R577X genotype between sprinters and controls reached statistical significance (P=0.041). The frequencies of the ACTN3 577X allele (30.69% vs. 40.35%; P=0.005) were significantly different in all athletes compared to controls. Our results support the hypothesis that the ACTN3 577XX allele may have some beneficial effect on sprintpower performance, because the ACTN3 XX genotype is significantly reduced in Polish power-oriented athletes compared to controls.This finding seems to be in agreement with previously reported case-control studies. However, ACTN3 polymorphism as a genetic marker for sport talent identification should be interpreted with great caution.

Keywords

EN

α-actinin-3; genotype; power-orientated athletes

• Publisher: De Gruyter Open
• Journal: Journal of Human Kinetics
• Year: 2011
• Volume: 28
• Pages: 55-61

Dates

published

1 - 6 - 2011

online

4 - 7 - 2011

Contributors

author

Paweł Cięszczyk

• Department of Physical Culture and Health Promotion, University of Szczecin, Poland

author

Jerzy Eider

• Department of Physical Culture and Health Promotion, University of Szczecin, Poland

author

Magdalena Ostanek

• Department of Clinical and Molecular Biochemistry, Pomeranian Medical University in Szczecin, Poland

author

Aleksandra Arczewska

• Department of Genetics, University of Edynburg, England

author

Agata Leońska-Duniec

• Department of Genetics, University of Szczecin, Poland

author

Stanisław Sawczyn

• Department of Sport Education, Academy of Physical Education and Sport, Poland

author

Krzysztof Ficek

• Galen Medical Center, Poland

author

Krzysztof Krupecki

• Department of Physical Culture and Health Promotion, University of Szczecin, Poland

References

• Ahmetov II, Druzhevskaya AM, Astratenkova IV, Popov DV, Vinogradova OL, Rogozkin VA. The ACTN3 R577X polymorphism in Russian endurance athletes. Br J Sports Med. 2010, 44:649-652.
• Arden NK, Spector TD. Genetic influences on muscle strength, lean body mass, and bone mineral density: a twin study. J Bone Miner Res. 1997, 12:2076-2081.[Crossref][PubMed]
• Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM. Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem. 1992, 267:9281-9288.
• Blanchard A, Ohanian V, Critchley D. The structure and function of alpha-actinin. J Muscle Res Cell Motil. 1989, 10:280-289.[Crossref][PubMed][WoS]
• Buchner DM, Cress ME, de Lateur BJ, Wagner EH. Variability in the effect of strength training on skeletal muscle strength in older adults. Facts Res Gerontol. 1993, 7:143-153.
• Clarkson PM, Hoffman EP, Zambraski E, Gordish-Dressman H, Kearns A, Hubal M, Harmon B, Devaney JM. ACTN3 and MLCK genotype associations with exertional muscle damage. J Appl Physiol. 2005, 99:564-569.[Crossref][PubMed]
• Delmonico MJ, Zmuda JM, Taylor BC, Cauley JA, Harris TB, Manini TM, Schwartz A, Li R, Roth SM, Hurley BF, Bauer DC, Ferrell RE, Newman AB. Association of the ACTN3 Genotype and Physical Functioning. With Age in Older Adults. J Gerontol A Biol Sci Med Sci. 2008, 63:1227-1234.[WoS][Crossref]
• Druzhevskaya AM, Ahmetov II, Astratenkova IV, Rogozkin VA. Association of the ACTN3 R577X polymorphism with power athlete status in Russians. Eur J Appl Physiol. 2008, 103:631-634.[WoS]
• Eynon N, Duarte JA, Oliveira J, Sagiv M, Yamin C, Meckel Y, Sagiv M, Goldhammer E. ACTN3 R577X polymorphism and Israeli top-level athletes. Int J Sports Med. 2009,30:695-698.[WoS]
• Hanson ED, Ludlow AT, Sheaff AK, Park J, Roth SM. ACTN3 Genotype Does not Influence Muscle Power. Int J Sports Med. 2010, 31:834-838.[PubMed][Crossref]
• Lucia A, Gómez-Gallego F, Santiago C, Bandrés F, Earnest G, Rabadán P, Alonso JM, Hoyos J, Córdova A, Villa G, Foster C. ACTN3 genotype in professional endurance cyclists. Int J Sports Med. 2006, 27:880-884.[Crossref][PubMed]
• McCauley T. Mastana S. Hossack J, MacDonald M, Folland JP. Human angiotensin-converting enzyme I/D and α-actinin 3 R577X genotypes and muscle functional and contractile properties. Exp Physiol. 2009, 94:81-89.[WoS]
• MacArthur DG, North KN. A gene for speed? The evolution and function of a actinin 3. BioEssays. 2004, 26:786-795.[Crossref][PubMed]
• MacArthur DG, North KN. ACTN3: A genetic influence on muscle function and athletic performance. Exerc Sport Sci Rev. 2007,35:30-34.[Crossref][PubMed][WoS]
• MacArthur DG, Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, Lemckert FA, Kee AJ, Edwards MR, Berman Y, Hardeman EC, Gunning PW, Easteal S, Yang N, North KN. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet. 2007, 39:1261-1265.[Crossref][WoS]
• Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K. Differential expression of the actinbinding proteins, a-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Hum Mol Gen. 2001, 10:1335-1346.[Crossref]
• Moran CN, Yang N, Bailey M, Tsiokanos A, Jamurtas A, MacArthur DG, North K, Pitsiladis YP, Wilson RH. Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet. 2007, 15:88-93.[WoS]
• Niemi AK, Majamaa K. Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet. 2005, 13:965-969.[Crossref]
• Norman B, Esbjörnsson M, Rundqvist H, Osterlund T, von Walden F, Tesch PA. Strength, power, fiber types and mRNA expression in trained men and women with different ACTN3 R577X genotypes. J Appl Physiol. 2009, 106:959-965.
• North K N, Yang N, Wattanasirichaigoo D, Mills M, Tong HQ, Easteal S, Beggs AH. A common nonsense mutation results in a-actinin-3 deficiency in the general population: Evidence for genetic redundancy in humans. Nat Genet. 1999, 21:353-354.
• Papadimitriou ID, Papadopoulos C, Kouvatsi A, Triantaphyllidis C. The ACTN3 Gene in Elite Greek Track and Field Athletes. Int J Sports Med. 2007, 29:352-355.
• Roth SM, Walsh S, Liu D, Metter EJ, Ferrucci L, Hurley BF. The ACTN3 R577X nonsense allele is underrepresented in elite-level strength athletes. Eur J Hum Genet. 2008, 16:391-394.[WoS]
• Santiago C, González-Freire M, Serratosa L, Morate FJ, Meyer T, Gómez-Gallego F, Lucia A. ACTN3 genotype in professional soccer players. Br J Sports Med. 2008, 42: 71-73.[PubMed]
• Spurway N, Wackerhage H. Genetics and molecular biology of muscle adaptation. Advances in sport and exercise science series. 2006. Edinburgh: Elsevier.
• Suminaga R, Matsuo M, Takeshima Y, Nakamura H, Wada H. Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. Am J Med Genet. 2000,92:77-78[PubMed]
• Wilmore JH, DL Costill. Physiology of Sport and Exercise. 2004. Champaign: Human Kinetics.
• Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel PJ, Thomis M. ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics. 2007, 32:58-63.[WoS]
• Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet. 2003, 73:627-631.[PubMed][Crossref]

Identifiers

DOI

10.2478/v10078-011-0022-0