Citius and longius (faster and longer) with no α-actinin-3 in skeletal muscles?

Lucía, Alejandro; Oliván, Jesús; Gómez‐Gallego, Félix; Santiago, Catalina; Montil, Marta; Foster, Carl

doi:10.1136/bjsm.2006.034199

Cited by 50 publications

(32 citation statements)

References 10 publications

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“…At least two reports (including present study) show that -actinin-3 deWciency is compatible with elite power athlete status. Lucia et al (2007) have reported the case of a Spanish elite long jumper (two times Olympian) whose genotype for the ACTN3 gene is XX. We have also observed one highly elite Russian hammer thrower (world record holder) with such genotype.…”

Section: Discussionmentioning

confidence: 97%

Association of the ACTN3 R577X polymorphism with power athlete status in Russians

et al. 2008

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The alpha-actinin-3 (ACTN3) gene encodes a Z-disc structural protein which is found only in fast glycolytic muscle fibers. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in alpha-actinin-3 deficiency in XX homozygotes. Previous reports have shown a lower proportion of the ACTN3 XX genotype in power-oriented athletes compared to the general population. In the present study we tested whether XX genotype was under-represented in Russian power-oriented athletes. The study involved 486 Russian power-oriented athletes of regional or national competitive standard. ACTN3 genotype and allele frequencies were compared to 1,197 controls. The frequencies of the ACTN3 XX genotype (6.4 vs. 14.2%; P < 0.0001) and X allele (33.3 vs. 38.7%; P = 0.004) were significantly lower in power-oriented athletes compared to controls. Furthermore, the lowest (3.4%) frequency of the ACTN3 XX genotype was found in a group of highly elite athletes, supporting the hypothesis that the presence of alpha-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity. In conclusion, ACTN3 R577X polymorphism was associated with power athlete status in Russians.

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Section: Discussionmentioning

confidence: 97%

Association of the ACTN3 R577X polymorphism with power athlete status in Russians

et al. 2008

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“…About 18% of Caucasians are deWcient in alpha-actinin-3 owing to homozygosity for a premature stop codon polymorphism, R577X, in the ACTN3 gene (MacArthur and North 2004). Homozygosity for this mutation is exceptional in elite sprinters (Niemi and Majamaa 2005;Lucia et al 2007). Experiments with transgenic mice have shown that loss of alpha-actinin-3 results in lower LDH activity (indicative of reduced anaerobic capacity), without aVecting muscle Wbre type distribution (Macarthur et al 2007).…”

Section: Discussionmentioning

confidence: 98%

Role of muscle mass on sprint performance: gender differences?

et al. 2007

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The aim of this study was to determine if gender differences in muscle mass explain the gender differences in running and cycling sprint performance. Body composition (dual-energy X-ray absorptiometry), and running (30 and 300 m test) and cycling (Wingate test) sprint performance were assessed in 123 men and 32 women. Peak power (PP) output in the Wingate test expressed per kg of lower extremities lean mass (LM) was similar in males and females (50.4 +/- 5.6 and 50.5 +/- 6.2 W kg(-1), P = 0.88). No gender differences were observed in the slope of the linear relation between LM and PP or mean power output (MP). However, when MP was expressed per kg of LM, the males attained a 22% higher value (26.6 +/- 3.4 and 21.9 +/- 3.2 W kg(-1), P < 0.001). The 30 and 300-m running time divided by the relative lean mass of the lower extremities (RLM = LM x 100/body mass) was significantly lower in males than in females. Although, the slope of the linear relationship between RLM and 300-m running time was not significantly different between genders, the males achieved better performance in the 300-m test than the females. The main factor accounting for gender differences in peak and mean power output during cycling is the muscle mass of the lower extremities. Although, the peak power generating capability of the muscle is similar in males and females, muscle mass only partially explains the gender difference in running sprints, even when expressed as a percentage of the whole body mass.

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“…15 The 577RR genotype has been previously associated with elite, power-oriented athletic status (i.e., sprinters, jumpers and throwers) in several cohorts of Caucasian athletes, 5,6,19 with one exception. 20 With regards to this, a recent meta-analysis showed a strong association between the 577RR genotype and power athletic performance especially among Europeans, regardless of the significant heterogeneity among the groups of athletes. 15 Team sports are intermittent in nature and require the repetition of powerful movements including short-distance sprinting and jumping, 21 and these actions require the working muscles to produce force at a high velocity.…”

Section: Discussionmentioning

confidence: 99%

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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Citius and longius (faster and longer) with no α-actinin-3 in skeletal muscles?

Cited by 50 publications

References 10 publications

Association of the ACTN3 R577X polymorphism with power athlete status in Russians

Association of the ACTN3 R577X polymorphism with power athlete status in Russians

Role of muscle mass on sprint performance: gender differences?

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

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