A Gene for Speed: The Emerging Role of α-Actinin-3 in Muscle Metabolism

Berman, Yemima; North, Klaus

doi:10.1152/physiol.00008.2010

Cited by 108 publications

(126 citation statements)

References 88 publications

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“…These individuals survive due to functional redundancy between ACTN3 and alpha-actinin-2 (ACTN2) although that redundancy must be incomplete since XX homozygotes are significantly less likely to become elite sprinters. This and similar findings have been replicated in many cohorts (Berman & North, 2010). Although a small number of studies find no association with sprint / power performance (e.g.…”

Section: Common Genetic Variantssupporting

confidence: 69%

Tour de France Champions born or made: where do we take the genetics of performance?

Moran

Pitsiladis

2016

Journal of Sports Sciences

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(200 words)Cyclists in the Tour de France are endurance specialists. Twin and family studies haveshown that approximately 50% of the variance in a number of performance related phenotypes (whether measured at baseline, i.e. natural talent, or in response to training) including those important to cycling can be explained by genetic variation. Research into the specific genetic variants that are responsible has identified over 200 genes containing common genetic variants involved in the genetic predisposition to physical performance.However, typically these explain only a small portion of the variance, perhaps 1-2% and collectively they rarely explain anything approaching the 50% of the variance identified in the twin and family studies. Thus, there is a gap in our understanding of the relationship between heritability and performance. This gap may be bridged by investigation of rare variants or epigenetic variation or by altering study designs through increased collaborations to pool exiting cohorts together. Initial findings from such efforts show promising results. This mini-review will touch on the genetics and epigenetics of sporting performance, how they relate to cyclists in the Tour de France and where best future efforts may be directed as well as discuss some preliminary research findings.

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Section: Common Genetic Variantssupporting

confidence: 69%

Tour de France Champions born or made: where do we take the genetics of performance?

Moran

Pitsiladis

2016

Journal of Sports Sciences

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“…26 These observations provide plausible explanation for the overall reduced sprint capacity in humans with the 577XX genotype, and possibly increased in sprint capacity in humans with the 577RR genotype. 1,27 We believe that the results of this carefully controlled study are valid, as we strictly followed the latest genotype: phenotype study recommendations 16 and all of the following criteria have been met: all studied participants presented the main study phenotype (i.e., being a professional team sports athletes). Although we studied three cohorts, participants within and between each cohort were both age and ethnically matched (all European Caucasians), genetic assessment was accurate and unbiased, with genotype distribution being in Hardy-Weinberg equilibrium (HWE) in both cases and controls.…”

Section: Discussionmentioning

confidence: 92%

ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts

Eynon

Banting

Ruiz

et al. 2014

Journal of Science and Medicine in Sport

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a b s t r a c tObjectives: To determine the association between the ␣-actinin-3 (ACTN3) R577X polymorphism and elite team-sport athletic status in three cohorts of European team-sport athletes. Design: We compared the genotype and allele frequencies of the ACTN3 R577X (rs1815739) polymorphisms between team-sport athletes (n = 205), endurance athletes (n = 305), sprint/power athletes (n = 378), and non-athletic controls (n = 568) from Poland, Russia and Spain; all participants were unrelated European men. Methods: Genomic DNA was extracted from either buccal epithelium or peripheral blood using a standard protocol. Genotyping was performed using several methods, and the results were replicated following recent recommendations for genotype-phenotype association studies. Results: Genotype distributions of all control and athletic groups met Hardy-Weinberg equilibrium (all p > 0.05). Team-sport athletes were less likely to have the 577RR genotype compared to the 577XX genotype than sprint/power athletes [odds ratio: 0.58, 95% confidence interval: 0.34-0.39, p = 0.045]. However, the ACTN3 R577X polymorphism was not associated with team-sports athletic status, compared to endurance athletes and non-athletic controls. Furthermore, no association was observed for any of the genotypes with respect to the level of competition (elite vs. national level). Conclusions: The ACTN3 R577X polymorphism was not associated with team-sport athletic status, compared to endurance athletes and non-athletic controls, and the observation that the 577RR genotype is overrepresented in power/sprint athletes compared with team-sport athletes needs to be confirmed in future studies.

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“…As α-actininas sarcoméricas apresentam uma grande diversidade de parceiros de ligação 12,35 . Portanto, uma alteração na expressão dessas proteínas pode afetar uma ampla diversidade de proteínas estruturais e vias de sinalização.…”

Section: Considerações Finaisunclassified

“…Porém, ainda que a deficiência da α-actinina-3 possa ser suprida pela isoforma -2 da α-actinina, é provável que estas proteínas não desempenhem papéis totalmente compatíveis, devido à conservação destas durante o processo evolutivo 11 . Diversos estudos têm indicado que a presença ou ausência da α-actinina-3 pode ter importantes implicações para a função muscular e, por consequência, para o desempenho esportivo 12,13 . Em outras palavras, tem se demonstrado que a presença da α-actinina-3 beneficia o desempenho em tarefas que exigem maior utilização da força muscular 14 .…”

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“…Na linha Z, as α-actininas são componentes primordiais, pois se ligam aos filamentos de actina de sarcômeros adjacentes, cumprindo a função de ancoragem dos filamentos finos e formando uma estrutura estabilizadora do tecido muscular durante a contração 20 . Adicionalmente à sua função na organização estrutural do sarcômero, estudos recentes sugerem que as α-actininas sarcoméricas também atuam na regulação do processo contrátil, na regulação do metabolismo energético e possivelmente, na determinação do tipo de fibra muscular 12,19,21 . Tal diversidade de função tem sido atribuída à grande capacidade que as α-actininas, em especial a isoforma -3, têm de se ligar a outras proteínas e outros elementos regulatórios intracelulares 22 .…”

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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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A Gene for Speed: The Emerging Role of α-Actinin-3 in Muscle Metabolism

Cited by 108 publications

References 88 publications

Tour de France Champions born or made: where do we take the genetics of performance?

Tour de France Champions born or made: where do we take the genetics of performance?

ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts

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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