Int J Sports Med 2010; 31(11): 834-838
DOI: 10.1055/s-0030-1263116
Genetics & Molecular Biology

© Georg Thieme Verlag KG Stuttgart · New York

ACTN3 Genotype Does not Influence Muscle Power

E. D. Hanson1 , A. T. Ludlow1 , A. K. Sheaff1 , J. Park1 , S. M. Roth1
  • 1University of Maryland, Department of Kinesiology, School of Public Health, College Park, MD, United States
Further Information

Publication History

accepted after revision July 19, 2010

Publication Date:
09 September 2010 (online)

Abstract

The R577X polymorphism within the ACTN3 gene has been associated with elite athletic performance, strength, power, fat free mass, and adaptations to strength training, though inconsistencies exist in the literature. The specific muscle power phenotypes most influenced by the polymorphism are uncertain. The purpose of this study was to examine the association between ACTN3 R577X genotype and muscle power phenotypes. Recreationally active young men and women (N=57) were selected to complete 2 muscle performance assessments, an isokinetic fatigue protocol at testing speeds of 180° s−1 and 250° s−1 and a 30 s Wingate test. Isokinetic torque and Wingate power significantly decreased over the duration of each test, but no differences in the rate of decline were observed among ACTN3 genotype groups. Similarly, no significant genotype differences were observed for isokinetic peak torque, Wingate absolute or relative peak power, or fatigue index. These results indicate that in recreationally active individuals the ACTN3 R577X polymorphism is not associated with muscle performance phenotypes, supporting recent findings that R577X may only be important for predicting performance in elite athletes. Our data also indicate that using this polymorphism for genetic screening in the lay population is scientifically questionable.

References

  • 1 Blanchard A, Ohanian V, Critchley D. The structure and function of alpha-actinin.  J Muscle Res Cell Motil. 1989;  10 280-289
  • 2 Clarkson PM, Devaney JM, Gordish-Dressman H, Thompson PD, Hubal MJ, Urso M, Price TB, Angelopoulos TJ, Gordon PM, Moyna NM, Pescatello LS, Visich PS, Zoeller RF, Seip RL, Hoffman EP. ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women.  J Appl Physiol. 2005;  99 154-163
  • 3 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
  • 4 Delmonico MJ, Kostek MC, Doldo NA, Hand BD, Walsh S, Conway JM, Carignan CR, Roth SM, Hurley BF. Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women.  J Gerontol A Biol Sci Med Sci. 2007;  62 206-212
  • 5 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
  • 6 Eynon N, Alves AJ, Meckel Y, Yamin C, Ayalon M, Sagiv M, Sagiv M. Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?.  Metabolism. 2010;  59 861-865
  • 7 Eynon N, Alves AJ, Yamin C, Sagiv M, Duarte JA, Oliveira J, Ayalon M, Goldhammer E, Sagiv M, Meckel Y. Is there an ACE ID – ACTN3 R577X polymorphisms interaction that influences sprint performance?.  Int J Sports Med. 2009;  30 888-891
  • 8 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
  • 9 Hakkinen K, Keskinen KL. Muscle cross-sectional area and voluntary force production characteristics in elite strength- and endurance-trained athletes and sprinters.  Eur J Appl Physiol. 1989;  59 215-220
  • 10 Harriss DJ, Atkinson G. International Journal of Sports Medicine – Ethical Standards in Sport and Exercise Science Research.  Int J Sports Med. 2009;  30 701-702
  • 11 Jones EJ, Bishop PA, Woods AK, Green JM. Cross-sectional area and muscular strength: a brief review.  Sports Med. 2008;  38 987-994
  • 12 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
  • 13 McCauley T, Mastana SS, Folland JP. ACE I/D and ACTN3 R/X polymorphisms and muscle function and muscularity of older Caucasian men.  Eur J Appl Physiol. 2010;  109 269-277
  • 14 McCauley T, Mastana SS, Hossack J, Macdonald M, Folland JP. Human angiotensin-converting enzyme I/D and alpha-actinin 3 R577X genotypes and muscle functional and contractile properties.  Exp Physiol. 2009;  94 81-89
  • 15 Meckel Y, Atterbom H, Grodjinovsky A, Ben-Sira D, Rotstein A. Physiological characteristics of female 100 m sprinters of different performance levels.  J Sports Med Phys Fitness. 1995;  35 169-175
  • 16 Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K. Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.  Hum Mol Genet. 2001;  10 1335-1346
  • 17 Moran CN, Yang N, Bailey ME, 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
  • 18 Niemi AK, Majamaa K. Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes.  Eur J Hum Genet. 2005;  13 965-969
  • 19 Norman B, Esbjornsson M, Rundqvist H, Osterlund T, von WF, 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
  • 20 North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.  Nat Genet. 1999;  21 353-354
  • 21 Ogura Y, Naito H, Kakigi R, Ichinoseki-Sekine N, Kurosaka M, Katamoto S. Alpha-actinin-3 levels increase concomitantly with fast fibers in rat soleus muscle.  Biochem Biophys Res Commun. 2008;  372 584-588
  • 22 Papadimitriou ID, Papadopoulos C, Kouvatsi A, Triantaphyllidis C. The ACTN3 gene in elite Greek track and field athletes.  Int J Sports Med. 2008;  29 352-355
  • 23 Roth SM, Walsh S, Liu D, Metter EJ, Ferrucci L, Hurley BF. The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes.  Eur J Hum Genet. 2008;  16 391-394
  • 24 Ruiz JR, Arteta D, Buxens A, Artieda M, Gomez-Gallego F, Santiago C, Yvert T, Moran M, Lucia A. Can we identify a power-oriented polygenic profile?.  J Appl Physiol. 2010;  108 561-566
  • 25 Santiago C, Gonzalez-Freire M, Serratosa L, Morate FJ, Meyer T, Gomez-Gallego F, Lucia A. ACTN3 genotype in professional soccer players.  Br J Sports Med. 2008;  42 71-73
  • 26 Santiago C, Rodriguez-Romo G, Gomez-Gallego F, Gonzalez-Freire M, Yvert T, Verde Z, Naclerio F, Altmae S, Esteve-Lanao J, Ruiz JR, Lucia A. Is there an association between ACTN3 R577X polymorphism and muscle power phenotypes in young, non-athletic adults?.  Scand J Med Sci Sports. 2009;  Epub ahead of print
  • 27 Tharp G, Newhouse R, Uffelman L, Thorland W, Johnson G. Comparison of sprint and run times with performance on the Wingate anaerobic test.  Res Q Exer Sport. 1985;  73-76
  • 28 Vincent B, De BK, Ramaekers M, Van den EE, Van LM, Hespel P, Thomis MA. ACTN3 (R577X) genotype is associated with fiber type distribution.  Physiol Genomics. 2007;  32 58-63
  • 29 Walsh S, Liu D, Metter EJ, Ferrucci L, Roth SM. ACTN3 genotype is associated with muscle phenotypes in women across the adult age span.  J Appl Physiol. 2008;  105 1486-1491
  • 30 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

Correspondence

Stephen M. Roth

University of Maryland

Department of Kinesiology

School of Public Health

College Park, MD 20742

United States

Phone: +1/301/405 2504

Fax: +1/301/405 5578

Email: sroth1@umd.edu

    >