Download PDF
Int J Sports Med 2018; 39(02): 148-153
DOI: 10.1055/s-0043-120762
Genetics & Molecular Biology
© Georg Thieme Verlag KG Stuttgart · New York

Effects of the ACTN3 R577X Genotype on the Muscular Strength and Range of Motion Before and After Eccentric Contractions of the Elbow Flexors

Naoki Kikuchi   *
1   Department of Training Science, Nippon Sport Science University, Tokyo, Japan
,
Yosuke Tsuchiya   *
2   Faculty of Modern life, Teikyo Heisei University, Tokyo, Japan
,
Koichi Nakazato
3   Exercise Physiology, Nippon Sport Science University, Tokyo, Japan
,
Naokata Ishii
4   Graduate School of Arts and Sciences, The University of Tokyo, Tokyo, Japan
,
Eisuke Ochi
5   Faculty of Bioscience and Applied Chemistry, Hosei University, Tokyo, Japan
› Author Affiliations
Further Information

Publication History



accepted 25 September 2017

Publication Date:
17 November 2017 (online)

Also available at
    Permissions and Reprints

Abstract

The purpose of present study was to examine the association between ACTN3 R577X genotype and functional characteristics of elbow flexors before and after isokinetic eccentric contractions (ECCs). Fifty-two men (age: 20.8±3.8 years, height: 172.5±5.9 cm, body mass: 64.7±6.5 kg, BMI: 21.7±1.7) who had not participated in any regular resistance training for at least 1 year prior to this study were recruited. ECCs consisted of five sets of six maximal voluntary isokinetic (30°/s) ECCs of the elbow flexors with a range of motion (ROM) from 90° flexion to 0° (full extension). Measurements of maximal voluntary isometric contraction (MVC) torque, ROM, and muscle soreness were taken before, immediately after, and 1, 2, 3, and 5 days after ECCs. Genotyping results were analyzed for identifying ACTN3 R577X polymorphism (rs1815739) using TaqMan approach. The genotype frequencies of the ACTN3 R577X polymorphism were RR 26.9% (n=14), RX 50.0% (n=26), and XX 23.1% (n=12). There were no significant differences in MVC torque, ROM, and soreness between three genotype groups of ACTN3 R577X. However, MVC at baseline was greater in RR homozygotes than in X-allele carriers (combined XX and RX; p<0.05). ROM in RR homozygotes at baseline was lower than that of X-allele carriers. Although a significant decrease in ROM was observed in X-allele carriers until 3 days after ECCs, a significant ROM reduction in RR homozygotes was observed only immediately after ECCs. Our data indicated that ACTN3 RR genotype has higher MVC and lower flexibility than X-allele carriers at baseline, but the effect of ACTN3 R577X genotype on these two parameters is limited after ECCs.

Key words

single-nucleotide polymorphism - genetics - α-actinins - muscle damage - lengthening - delayed onset muscle soreness

* Authors contributed equally


 

  • References

  • 1 Ahmetov II, Druzhevskaya AM, Lyubaeva EV, Popov DV, Vinogradova OL, Williams AG. The dependence of preferred competitive racing distance on muscle fibre type composition and ACTN3 genotype in speed skaters. Exp Physiol 2011; 96: 1302-1310
    CrossrefPubMedGoogle Scholar
  • 2 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
    CrossrefPubMedGoogle Scholar
  • 3 Broos S, Malisoux L, Theisen D, Francaux M, Deldicque L, Thomis MA. Role of alpha-actinin-3 in contractile properties of human single muscle fibers: A case series study in paraplegics. PloS one 2012; 7: e49281
    CrossrefPubMedGoogle Scholar
  • 4 Chan S, Seto JT, MacArthur DG, Yang N, North KN, Head SI. A gene for speed: Contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse. Am J Physiol 2008; 295: C897-C904
    CrossrefPubMedGoogle Scholar
  • 5 Chen TC, Chen HL, Lin MJ, Wu CJ, Nosaka K. Muscle damage responses of the elbow flexors to four maximal eccentric exercise bouts performed every 4 weeks. Eur J Appl Physiol 2009; 106: 267-275
    CrossrefPubMedGoogle Scholar
  • 6 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
    CrossrefPubMedGoogle Scholar
  • 7 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
    CrossrefPubMedGoogle Scholar
  • 8 Del Coso J, Salinero JJ, Lara B, Gallo-Salazar C, Areces F, Puente C, Herrero D. ACTN3 X-allele carriers had greater levels of muscle damage during a half-ironman. Eur J Appl Physiol 2017; 117: 151-158
    CrossrefPubMedGoogle Scholar
  • 9 Del Coso J, Valero M, Salinero JJ, Lara B, Diaz G, Gallo-Salazar C, Ruiz-Vicente D, Areces F, Puente C, Carril JC, Cacabelos R. ACTN3 genotype influences exercise-induced muscle damage during a marathon competition. Eur J Appl Physiol 2017; 117: 409-416
    CrossrefPubMedGoogle Scholar
  • 10 Eynon N, Duarte JA, Oliveira J, Sagiv M, Yamin C, Meckel Y, Goldhammer E. ACTN3 R577X polymorphism and Israeli top-level athletes. Int J Sports Med 2009; 30: 695-698
    Article in Thieme ConnectPubMedGoogle Scholar
  • 11 Gajdosik RL. Passive extensibility of skeletal muscle: Review of the literature with clinical implications. Clin Biomech (Bristol, Avon) 2001; 16: 87-101
    CrossrefPubMedGoogle Scholar
  • 12 Harriss DJ, Atkinson G. Ethical standards in sport and exercise science research: 2016 update. Int J Sports Med 2015; 36: 1121-1124
    Article in Thieme ConnectPubMedGoogle Scholar
  • 13 Hogarth MW, Garton FC, Houweling PJ, Tukiainen T, Lek M, Macarthur DG, Seto JT, Quinlan KG, Yang N, Head SI, North KN. Analysis of the ACTN3 heterozygous genotype suggests that alpha-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion. Hum Mol Genet 2016; 25: 866-877
    CrossrefPubMedGoogle Scholar
  • 14 Inami T, Tsujimura T, Shimizu T, Watanabe T, Lau WY, Nosaka K. Relationship between isometric contraction intensity and muscle hardness assessed by ultrasound strain elastography. Eur J Appl Physiol 2017; 117: 843-852
    CrossrefPubMedGoogle Scholar
  • 15 Kikuchi N, Miyamoto-Mikami E, Murakami H, Nakamura T, Min SK, Mizuno M, Naito H, Miyachi M, Nakazato K, Fuku N. ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes. Eur J Sport Sci 2016; 16: 694-701
    CrossrefPubMedGoogle Scholar
  • 16 Kikuchi N, Ueda D, Min SK, Nakazato K, Igawa S. The ACTN3 XX genotype's underrepresentation in Japanese elite wrestlers. Int J Sports Physiol Perform 2013; 8: 57-61
    CrossrefPubMedGoogle Scholar
  • 17 Kikuchi N, Yoshida S, Min SK, Lee K, Sakamaki-Sunaga M, Okamoto T, Nakazato K. The ACTN3 R577X genotype is associated with muscle function in a Japanese population. Appl Physiol Nutr Metab 2015; 40: 316-322
    CrossrefPubMedGoogle Scholar
  • 18 Kikuchi N, Zempo H, Fuku N, Murakami H, Sakamaki-Sunaga M, Okamoto T, Nakazato K, Miyachi M. Association between ACTN3 R577X Polymorphism and trunk flexibility in 2 different cohorts. Int J Sports Med 2017; 38: 402-406
    Article in Thieme ConnectPubMedGoogle Scholar
  • 19 Kouzaki K, Nosaka K, Ochi E, Nakazato K. Increases in M-wave latency of biceps brachii after elbow flexor eccentric contractions in women. Eur J Appl Physiol 2016; 116: 939-946
    CrossrefPubMedGoogle Scholar
  • 20 Lacourpaille L, Nordez A, Hug F, Couturier A, Dibie C, Guilhem G. Time-course effect of exercise-induced muscle damage on localized muscle mechanical properties assessed using elastography. Acta Physiol (Oxf) 2014; 211: 135-146
    CrossrefPubMedGoogle Scholar
  • 21 MacArthur DG, North KN. ACTN3: A genetic influence on muscle function and athletic performance. Exerc Sport Sci Rev 2007; 35: 30-34
    CrossrefPubMedGoogle Scholar
  • 22 MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, Nicholson MD, Kee AJ, Hardeman EC, Gunning PW, Cooney GJ, Head SI, Yang N, North KN. An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet 2008; 17: 1076-1086
    CrossrefPubMedGoogle Scholar
  • 23 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
    CrossrefPubMedGoogle Scholar
  • 24 Macpherson PC, Schork MA, Faulkner JA. Contraction-induced injury to single fiber segments from fast and slow muscles of rats by single stretches. Am J Physiol 1996; 271: C1438-C1446
    CrossrefPubMedGoogle Scholar
  • 25 Mikami E, Fuku N, Murakami H, Tsuchie H, Takahashi H, Ohiwa N, Tanaka H, Pitsiladis YP, Higuchi M, Miyachi M, Kawahara T, Tanaka M. ACTN3 R577X genotype is associated with sprinting in elite Japanese athletes. Int J Sports Med 2014; 35: 172-177
    Article in Thieme ConnectPubMedGoogle Scholar
  • 26 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
    CrossrefPubMedGoogle Scholar
  • 27 Olson EN, Williams RS. Calcineurin signaling and muscle remodeling. Cell 2000; 101: 689-692
    CrossrefPubMedGoogle Scholar
  • 28 Pimenta EM, Coelho DB, Cruz IR, Morandi RF, Veneroso CE, de Azambuja Pussieldi G, Carvalho MR, Silami-Garcia E, De Paz Fernandez JA. The ACTN3 genotype in soccer players in response to acute eccentric training. Eur J Appl Physiol 2012; 112: 1495-1503
    CrossrefPubMedGoogle Scholar
  • 29 Seto JT, Lek M, Quinlan KG, Houweling PJ, Zheng XF, Garton F, MacArthur DG, Raftery JM, Garvey SM, Hauser MA, Yang N, Head SI, North KN. Deficiency of alpha-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Hum Mol Genet 2011; 20: 2914-2927
    CrossrefPubMedGoogle Scholar
  • 30 Seto JT, Quinlan KG, Lek M, Zheng XF, Garton F, MacArthur DG, Hogarth MW, Houweling PJ, Gregorevic P, Turner N, Cooney GJ, Yang N, North KN. ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J Clin Invest 2013; 123: 4255-4263
    CrossrefPubMedGoogle Scholar
  • 31 Tsuchiya Y, Yanagimoto K, Nakazato K, Hayamizu K, Ochi E. Eicosapentaenoic and docosahexaenoic acids-rich fish oil supplementation attenuates strength loss and limited joint range of motion after eccentric contractions: A randomized, double-blind, placebo-controlled, parallel-group trial. Eur J Appl Physiol 2016; 116: 1179-1188
    CrossrefPubMedGoogle Scholar
  • 32 Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel P, Thomis MA. ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics 2007; 32: 58-63
    CrossrefPubMedGoogle Scholar
  • 33 Vincent B, Windelinckx A, Nielens H, Ramaekers M, Van Leemputte M, Hespel P, Thomis MA. Protective role of alpha-actinin-3 in the response to an acute eccentric exercise bout. J Appl Physiol 2010; 109: 564-573
    CrossrefPubMedGoogle Scholar
  • 34 Weerakkody N, Percival P, Morgan DL, Gregory JE, Proske U. Matching different levels of isometric torque in elbow flexor muscles after eccentric exercise. Exp Brain Res 2003; 149: 141-150
    CrossrefPubMedGoogle Scholar
  • 35 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
    CrossrefPubMedGoogle Scholar
  • 36 Zempo H, Miyamoto-Mikami E, Kikuchi N, Fuku N, Miyachi M, Murakami H. Heritability estimates of muscle strength-related phenotypes: A systematic review and meta-analysis. Scand J Med Sci Sports 2016; DOI: 10.1111/sms.12804.
    CrossrefPubMedGoogle Scholar