ACTN3 and ACE Genotypes in Elite Jamaican and US Sprinters

Scott, Robert A.; Irving, Rachael; Irwin, Laura; Morrison, Errol; Charlton, Vilma; Austin, Krista G.; Tladi, Dawn; Deason, Michael; Headley, Samuel; Kolkhorst, Fred W.; Yang, Nan; North, Klaus; Pitsiladis, Yannis

doi:10.1249/mss.0b013e3181ae2bc0

Cited by 131 publications

(102 citation statements)

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“…Indeed, because gains were greatest for RR and least for RX or XX polymorphisms, a trend for a dose response in the R577X genotype was observed in the present study. These findings are consistent with previous reports indicating that alpha-actinin-3 deficiency appears to impair muscle performance (in different population studies) (Clarkson et al 2005;Scott et al 2010;Judson et al 2011). Recent research (Seto et al 2011) concluded that genotype differences in fast muscle force production result in fast-twitch fibers developing slower properties, suggesting that the lack of alpha-actinin-3 may cause faster decline in muscle function with increasing age.…”

Section: Discussionsupporting

confidence: 92%

ACE I/D and ACTN3 R/X polymorphisms as potential factors in modulating exercise-related phenotypes in older women in response to a muscle power training stimuli

Pereira

Costa

Izquierdo

et al. 2012

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Genetic variation of the human ACE I/D and ACTN3 R577X polymorphisms subsequent to 12 weeks of high-speed power training on maximal strength (1RM) of the arm and leg muscles, muscle power performance (counter-movement jump), and functional capacity (sit-to-stand test) was examined in older Caucasian women [n0139; mean age 65.5 (8.2) years; 67.0 (10.0) kg and 1.57 (0.06) m]. Chelex 100 was used for DNA extraction, and genotype was determined by PCR-RFLP methods. Muscular strength, power, and functional testing were conducted at baseline (T1) and after 12 weeks (T2) of high-speed power training. At baseline, the ACE I/D and ACTN3 R/X polymorphisms were not associated with muscle function or muscularity phenotypes in older Caucasian women. After the 12-week high-speed training program, subjects significantly increased their muscular and functional capacity performance (p<0.05). For both polymorphisms, significant genotype-training interaction (p<0.05) was found in all muscular performance indices, except for 1RM leg extension in the ACE I/D (p00.187). Analyses of the combined effects between genotypes showed significant differences in all parameters (p<0.05) in response to high-speed power training between the power (ACTN3 RR+RX & ACE DD) versus "non-power" muscularity-oriented genotypes (ACTN3 XX & ACE II+ID)]. Our data suggest that the ACE and ACTN3 genotypes (single or combined) exert a significant influence in the muscle phenotypes of older Caucasian women in response to high-speed power training. Thus, the ACE I/D and ACTN3 R/X polymorphisms are likely factors in modulating exercise-related phenotypes in older women, particularly in response to a resistance training stimuli.

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Section: Discussionsupporting

confidence: 92%

ACE I/D and ACTN3 R/X polymorphisms as potential factors in modulating exercise-related phenotypes in older women in response to a muscle power training stimuli

Pereira

Costa

Izquierdo

et al. 2012

AGE

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“…Thus, with the present design for phenotype assessment, the hypothesis that ACE I/D and ACTN3 R557X genotypes might exert a combined influence on leg muscle phenotypes was not corroborated. Though controversy exists (McCauley et al 2009(McCauley et al , 2010Moran et al 2006), the ACE D allele has been associated with power-related phenotypes in non-athletic populations (Giaccaglia et al 2008;Hopkinson et al 2004;Yamin et al 2007); this allele has also been associated with elite "sprint" athletic performance (Myerson et al 1999;Woods et al 2001), though more recent data do not corroborate such association Scott et al 2005Scott et al , 2010. However, the association between leg 'explosive' muscle power and the ACE I/D polymorphism had not been studied to date.…”

Section: Discussionmentioning

confidence: 99%

Does the ACE I/D polymorphism, alone or in combination with the ACTN3 R577X polymorphism, influence muscle power phenotypes in young, non-athletic adults?

et al. 2010

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We investigated the association of the angiotensin converting enzyme gene (ACE) insertion/deletion (I/D) polymorphism, alone or in combination with the a-actinin-3 gene (ACTN3) R577X polymorphism, with jumping (vertical squat and counter-movement jump tests) and sprint ability (30 m dash) in non-athletic, healthy young adults [N -281 (214 male), mean (SD) age 21 (2) years]. We did not observe any effect of the ACE I/D polymorphism on study phenotypes. We repeated the analyses separately in men and women and the results did not materially change. Likewise, the mean estimates of the study phenotypes were similar in subjects with the genotype combinations ACE II + ID and ACTN3 XX or ACE DD and ACTN3 RR + RX. We found no association between the ACE DD and ACTN3 RR + RX genotype combination and performance (>90th of the sex-specific

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“…Por outro lado, sua deficiência parece beneficiar o desempenho em provas de longa duração 9,15 . Além disso, a etnia da população analisada deve ser levada em conta em estudos de associação do gene ACTN3 com o desempenho esportivo 40 . Contudo, a influência da α-actinina-3 no desempenho em provas de longa duração ainda necessita de mais investigações.…”

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“…Por outro lado, Scott et al 40 não verificaram diferenças de frequência do genótipo XX entre atletas velocistas e indivíduos não-atletas. Foram analisados velocistas de elite jamaicanos (AJ) e norte-americanos (ANA) comparados a indiví-duos controle também jamaicanos (CJ) e norte--americanos (CNA).…”

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“…Consequentemente, indivíduos que apresentam deficiência na expressão dessa proteína parecem ter certa desvantagem em modalidades com essas características 39 . Porém, isso parece ser dependente da etnia da população analisada 40 . Diferentemente de tarefas de predominante força ou potência muscular, a ausência da forma funcional da α-actinina-3 parece beneficiar atletas de provas de longa duração.…”

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ACTN 3 e desempenho esportivo: um gene candidato ao sucesso em provas de curta e longa duração.<br>DOI:10.5007/1980-0037.2011v13n6p477

Pasqua

Artioli

Pires

et al. 2011

Rev. Bras. Cineantropom. Desempenho Hum.

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ACtn3 e desempenho esportivo: um gene candidato ao sucesso em provas de curta e longa duração ACTN3 gene and sports performance: a candidate gene to success in short and long duration eventsResumo -O presente estudo revisou evidências acerca da relação entre o polimorfismo R577X do gene ACTN3 e o desempenho esportivo. Foram acessados estudos na base Pubmed através das palavras-chave: ACTN3 gene e sports performance. O gene ACTN3 codifica para uma proteína presente nas fibras musculares esqueléticas tipo II, a α-actinina-3. A maioria dos estudos demonstra uma relação entre a presença da α-actinina-3 e a capacidade de geração de força muscular. Porém, estudos recentes apontam que a ausência da forma funcional dessa proteína pode regular a utilização de substratos durante o exercício, priorizando o metabolismo oxidativo, poupando glicogênio muscular e favorecendo o desempenho em atividades de longa duração. Porém, ainda são necessários mais estudos envolvendo humanos para elucidar melhor esse papel metabólico. Palavras-chave: ACTN3; Desempenho esportivo; Genética; Metabolismo aeróbio.Abstract -The aim of the present study was to review the evidence on the relationship between the R577X polymorphism of the ACTN3 gene and sports performance. The Pubmed database was searched using ACTN3 gene AND sports performance as keywords. The ACTN3 gene encodes a muscle-specific protein, called α-actinin-3, which is only present in type II fibers. Most studies have demonstrated a relationship between the presence of α-actinin-3 and the ability of muscle to generate force. However, recent studies suggest that the absence of the functional form of this protein may regulate substrate utilization during exercise, giving priority to oxidative metabolism, sparing muscle glycogen, and improving performance in long-duration events. Nevertheless, further studies involving humans are needed to better understand the metabolic role of this protein.

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ACTN3 and ACE Genotypes in Elite Jamaican and US Sprinters

Cited by 131 publications

References 41 publications

ACE I/D and ACTN3 R/X polymorphisms as potential factors in modulating exercise-related phenotypes in older women in response to a muscle power training stimuli

ACE I/D and ACTN3 R/X polymorphisms as potential factors in modulating exercise-related phenotypes in older women in response to a muscle power training stimuli

Does the ACE I/D polymorphism, alone or in combination with the ACTN3 R577X polymorphism, influence muscle power phenotypes in young, non-athletic adults?

ACTN 3 e desempenho esportivo: um gene candidato ao sucesso em provas de curta e longa duração.<br>DOI:10.5007/1980-0037.2011v13n6p477

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