ACTN3 R577X polymorphism and neuromuscular response to resistance training

Journal of Sports Science and Medicine

Volumn 10, Issue 2, 2011, Pages 393-399

  Gentil, Paulo ^a   Pereira, Rinaldo W ^b   Leite, Tailce K M ^b   Bottaro, Martim ^a  

^a UNIVERSITY OF BRASILIA   (Brazil)

^b UNIVERSIDADE CATÓLICA DE BRASÍLIA   (Brazil)

Author keywords

Alpha actinin 3; Genotype; Knee extensor; Muscle hypertrophy; Muscle strength; Peak torque

Indexed keywords

EID: 79958089830     PISSN: None     EISSN: 13032968     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. Abe, T., DeHoyos, D.V., Pollock, M.L. and Garzarella, L. (2000) Time course for strength and muscle thickness changes following upper and lower body resistance training in men and women. European Journal of Applied Physiology 81, 174-180.
2. ACSM. (2009) American College of Sports Medicine position stand. Progression models in resistance training for healthy adults. Medicine and Science in Sports and Exercise 41, 687-708.
3. Arden, N.K. and Spector, T.D. (1997) Genetic influences on muscle strength, lean body mass, and bone mineral density: a twin study. Journal of Bone and Mineral Research 12, 2076-2081.
4. Beggs, A.H., Byers, T.J., Knoll, J.H., Boyce, F.M., Bruns, G.A. and Kunkel, L.M. (1992) Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. Journal of Biological Chemistry 267, 9281-9288.
5. 2) in muscle strength and power? Exercise and Sport Science Reviews 32, 148-154.
6. Bray, M.S., Hagberg, J.M., Perusse, L., Rankinen, T., Roth, S.M., Wolfarth, B. and Bouchard, C. (2009) The human gene map for performance and health-related fitness phenotypes: the 2006-2007 update. Medicine and Science in Sports and Exercise 41, 35-73.
7. Brutsaert, T.D. and Parra, E.J. (2006) What makes a champion? Explaining variation in human athletic performance. Respiratory Physiology & Neurobiology 151, 109-123.
8. Chan, S., Seto, J.T., MacArthur, D.G., Yang, N., North, K.N. and Head, S.I. (2008) A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse. American Journal of Physiology:Cell Physiology 295,C897-904
9. Chanock, S.J., Manolio, T., Boehnke, M., Boerwinkle, E., Hunter, D.J., Thomas, G., Hirschhorn, J.N., Abecasis, G., Altshuler, D., Bailey-Wilson, J.E., Brooks, L.D., Cardon, L.R., Daly, M., Donnelly, P., Fraumeni, J.F., Jr., Freimer, N.B., Gerhard, D.S., Gunter, C., Guttmacher, A.E., et al. (2007) Replicating genotype-phenotype associations. Nature 447, 655-660.
10. Chilibeck, P.D., Stride, D., Farthing, J.P. and Burke, D.G. (2004) Effect of creatine ingestion after exercise on muscle thickness in males and females. Medicine and Science in Sports and Exercise 36, 1781-1788.
11. Clarkson, P.M., Devaney, J.M., Gordish-Dressman, H., Thompson, P.D., Hubal, M.J., Urso, M., Price, T.B., Angelopoulos, T.J., Gordon, P.M., Moyna, N.M., Pescatello, L.S., Visich, P.S., Zoeller, R.F., Seip, R.L. and Hoffman, E.P. (2005) ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. Journal of Applied Physiology 99, 154-163.
12. Clarkson, P.M. and Newham, D.J. (1995) Associations between muscle soreness, damage, and fatigue. Advances in Experimental Medicine and Biology 384, 457-469.
13. Delmonico, M.J., Kostek, M.C., Doldo, N.A., Hand, B.D., Walsh, S., Conway, J.M., Carignan, C.R., Roth, S.M. and Hurley, B.F. (2007) Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women. Journal of Gerontology Series A: Biological Sciences and Medical Sciences 62, 206-212.
14. Delmonico, M.J., Zmuda, J.M., Taylor, B.C., Cauley, J.A., Harris, T.B., Manini, T.M., Schwartz, A., Li, R., Roth, S.M., Hurley, B.F., Bauer, D.C., Ferrell, R.E. and Newman, A.B. (2008) Association of the ACTN3 genotype and physical functioning with age in older adults. Journal of Gerontology Series A: Biological Sciences and Medical Sciences 63, 1227-1234.
15. Druzhevskaya, A.M., Ahmetov, I.I., Astratenkova, I.V. and Rogozkin, V.A. (2008) Association of the ACTN3 R577X polymorphism with power athlete status in Russians. Journal of Applied Physiology European Journal of Applied Physiology 103, 631-634.
16. Eynon, N., Duarte, J.A., Oliveira, J., Sagiv, M., Yamin, C., Meckel, Y. and Goldhammer, E. (2009) ACTN3 R577X polymorphism and Israeli top-level athletes. International Journal of Sports Medicine 30, 695-698.
17. Frey, N. and Olson, E.N. (2002) Calsarcin-3, a novel skeletal musclespecific member of the calsarcin family, interacts with multiple Z-disc proteins. Journal of Biological Chemistry 277, 13998-14004.
18. Frey, N., Richardson, J.A. and Olson, E.N. (2000) Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. The Proceedings of the National Academy of Sciences 97, 14632-14637.
19. Fry, A.C. (2004) The role of resistance exercise intensity on muscle fibre adaptations. Sports Medicine 34, 663-679.
20. Gentil, P. and Bottaro, M. (2010) Influence of Supervision Ratio on Muscle Adaptations to Resistance Training in Nontrained Subjects. Journal of Strength Conditioning Research. 24, 639-643.
21. Harriss, D.J. and Atkinson, G. (2009) International Journal of Sports Medicine - ethical standards in sport and exercise science research. International Journal of Sports Medicine 30, 701-702.
22. Hather, B.M., Tesch, P.A., Buchanan, P. and Dudley, G.A. (1991) Influence of eccentric actions on skeletal muscle adaptations to resistance training. Acta Physiologica Scandinavica 143, 177-185.
23. Jung, A.P. (2003). The impact of resistance training on distance running performance. Sports Medicine 33, 539-552.
24. Kraemer, W.J. and Fry, A.C. (1995) Strength testing: development and evaluation of methodology. In: Physiological assessment of human fitness. Eds: Maud, P. and Foster, C. Human Kinetics, Champaingn, IL. 115-138.
25. MacArthur, D.G. and North, K.N. (2004) A gene for speed? The evolution and function of alpha-actinin-3. Bioessays 26, 786-795.
26. MacArthur, D.G. and North, K.N. (2007) ACTN3: A genetic influence on muscle function and athletic performance. Exercise and Sport Science Review 35, 30-34.
27. MacArthur, D.G., Seto, J.T., Chan, S., Quinlan, K.G., Raftery, J.M., Turner, N., Nicholson, M.D., Kee, A.J., Hardeman, E.C., Gunning, P.W., Cooney, G.J., Head, S.I., Yang, N. and North, K.N. (2008) An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Human Molecular Genetics 17, 1076-1086.
28. McCauley, T., Mastana, S.S., Hossack, J., Macdonald, M. and Folland, J.P. (2009) Human angiotensin-converting enzyme I/D and alpha-actinin 3 R577X genotypes and muscle functional and contractile properties. Experimental Physiology 94, 81-89.
29. Moran, C.N., Yang, N., Bailey, M.E., Tsiokanos, A., Jamurtas, A., MacArthur, D.G., North, K., Pitsiladis, Y.P. and Wilson, R.H. (2007) Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. European Journal of Human Genetics 15, 88-93.
30. Newman, A.B., Kupelian, V., Visser, M., Simonsick, E.M., Goodpaster, B.H., Kritchevsky, S.B., Tylavsky, F.A., Rubin, S.M. and Harris, T.B. (2006) Strength, but not muscle mass, is associated with mortality in the health, aging and body composition study cohort. Journal of Gerontology Series A: Biological Sciences and Medical Sciences 61, 72-77.
31. Niemi, A.K. and Majamaa, K. (2005).Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. European Journal of Human Genetics 13, 965-969.
32. Norman, B., Esbjornsson, M., Rundqvist, H., Osterlund, T., von Walden, F. and Tesch, P.A. (2009). Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. Journal of Applied Physiology 106, 959-965.
33. North, K.N. and Beggs, A.H. (1996) Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscular Disorders 6, 229-235.
34. North, K.N., Yang, N., Wattanasirichaigoon, D., Mills, M., Easteal, S. and Beggs, A.H. (1999) A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nature Genetics 21, 353-354.
35. Papadimitriou, I.D., Papadopoulos, C., Kouvatsi, A. and Triantaphyllidis, C. (2008) The ACTN3 gene in elite Greek track and field athletes. International Journal of Sports Medicine 29, 352-355.
36. Paparini, A., Ripani, M., Giordano, G.D., Santoni, D., Pigozzi, F. and Romano-Spica, V. (2007) ACTN3 genotyping by real-time PCR in the Italian population and athletes. Medicine and Science in Sports and Exercise 39, 810-815.
37. Prior, S.J., Roth, S.M., Wang, X., Kammerer, C., Miljkovic-Gacic, I., Bunker, C.H., Wheeler, V.W., Patrick, A.L. and Zmuda, J.M. (2007) Genetic and environmental influences on skeletal muscle phenotypes as a function of age and sex in large, multigenerational families of African heritage. Journal of Applied Physiology 103, 1121-1127.
38. Roth, S.M., Walsh, S., Liu, D., Metter, E.J., Ferrucci, L. and Hurley, B.F. (2008) The ACTN3 R577X nonsense allele is underrepresented in elite-level strength athletes. European Journal of Human Genetics 16, 391-394.
39. Sakuma, K. and Yamaguchi, A. (2010) The functional role of calcineurin in hypertrophy, regeneration, and disorders of skeletal muscle. Journal of Biomedicine and Biotechnology 2010, 721219.
40. San Juan, A.F., Gomez-Gallego, F., Canete, S., Santiago, C., Perez, M. and Lucia, A. (2006) Does complete deficiency of muscle alpha actinin 3 alter functional capacity in elderly women? A preliminary report. British Journal of Sports Medicine 40, e1.
41. Sanada, K., Kearns, C.F., Midorikawa, T. and Abe, T. (2006) Prediction and validation of total and regional skeletal muscle mass by ultrasound in Japanese adults. European Journal of Applied Physiology 96, 24-31.
42. Stewart, C.E. and Rittweger, J. (2006) Adaptive processes in skeletal muscle: molecular regulators and genetic influences. Journal of Musculoskeletal and Neuronal Interactions 6, 73-86.
43. Tesch, P.A. and Karlsson, J. (1985) Muscle fiber types and size in trained and untrained muscles of elite athletes. Journal of Applied Physiology 59, 1716-1720.
44. Thomis, M., Beunen, G., Maes, H., Blimkie, C., Van Leemputte, M., Claessens, A., Marchal, G., Willems, E. and Vlietinck, R. (1998) Strength training: importance of genetic factors. Medicine and Science in Sports and Exercise 30, 724-731.
45. Thomis, M., Huygens, W., Heuninckx, S., Chagnon, M., Maes, H., Claessens, A., Vlietinck, R., Bouchard, C. and Beunen, G. (2004) Exploration of myostatin polymorphisms and the angiotensin-converting enzyme insertion/deletion genotype in responses of human muscle to strength training. European Journal of Applied Physiology 92, 267-274.
46. Thomis, M.A., Van Leemputte, M., Maes, H.H., Blimkie, C.J., Claessens, A.L., Marchal, G., Willems, E., Vlietinck, R.F. and Beunen, G.P. (1997). Multivariate genetic analysis of maximal isometric muscle force at different elbow angles. Journal of Applied Physiology 82, 959-967.
47. Tiainen, K., Sipila, S., Kauppinen, M., Kaprio, J. and Rantanen, T. (2009) Genetic and environmental effects on isometric muscle strength and leg extensor power followed up for three years among older female twins. Journal of Applied Physiology 106, 1604-1610.
48. Vincent, B., De Bock, K., Ramaekers, M., Van den Eede, E., Van Leemputte, M., Hespel, P. and Thomis, M.A. (2007) ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics 32, 58-63.
49. Visser, M., Goodpaster, B.H., Kritchevsky, S.B., Newman, A.B., Nevitt, M., Rubin, S.M., Simonsick, E.M. and Harris, T.B. (2005) Muscle mass, muscle strength, and muscle fat infiltration as predictors of incident mobility limitations in well-functioning older persons. Journal of Gerontology Series A: Biological Sciences and Medical Sciences 60, 324-333.
50. Walsh, S., Liu, D., Metter, E.J., Ferrucci, L. and Roth, S.M. (2008) ACTN3 genotype is associated with muscle phenotypes in women across the adult age span. Journal of Applied Physiology 105, 1486-1491.
51. Wolfarth, B., Bray, M.S., Hagberg, J.M., Perusse, L., Rauramaa, R., Rivera, M.A., Roth, S.M., Rankinen, T. and Bouchard, C. (2005) The human gene map for performance and health-related fitness phenotypes: the 2004 update. Medicine and Science in Sports and Exercise 37, 881-903.
52. Yang, N., MacArthur, D.G., Gulbin, J.P., Hahn, A.G., Beggs, A.H., Easteal, S. and North, K. (2003) ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics 73, 627-631.
53. Yang, N., MacArthur, D.G., Wolde, B., Onywera, V.O., Boit, M.K., Lau, S.Y., Wilson, R.H., Scott, R.A., Pitsiladis, Y.P. and North, K. (2007) The ACTN3 R577X polymorphism in East and West African athletes. Medicine and Science in Sports and Exercise 39, 1985-1988.