Optimum polygenic profile to resist exertional rhabdomyolysis during a marathon

Coso, Juan Del; Valero, Marjorie; Lara, Beatriz; Gallo-Salazar, César; Areces, Francisco

doi:10.1371/journal.pone.0172965

Cited by 36 publications

(31 citation statements)

References 40 publications

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“…This finding was reported using drop jumps as the only exercise model to induce muscle damage and therefore requires further corroboration with other forms of exercise. A recent study found that, rather than the ACTN3 R577X variant only, it was the cumulative influence of several genetic polymorphisms (including ACTN3 R577X) that was associated with the magnitude of muscle damage after a marathon (Del Coso et al 2017b). This latter investigation agrees with a previous analysis in which the ACTN3 R577X genotype, in combination with other genes, was related to an increased likelihood of suffering a clinical case of exertional rhabdomyolysis (Deuster et al 2013).…”

Section: The Role Of α-Actinin-3 To Reduce Exercise-induced Muscle Dasupporting

confidence: 85%

More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

et al. 2018

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A common null polymorphism (rs1815739; R577X) in the gene that codes for α-actinin-3 (ACTN3) has been related to different aspects of exercise performance. Individuals who are homozygous for the X allele are unable to express the α-actinin-3 protein in the muscle as opposed to those with the RX or RR genotype. α-actinin-3 deficiency in the muscle does not result in any disease. However, the different ACTN3 genotypes can modify the functioning of skeletal muscle during exercise through structural, metabolic or signalling changes, as shown in both humans and in the mouse model. Specifically, the ACTN3 RR genotype might favour the ability to generate powerful and forceful muscle contractions. Leading to an overall advantage of the RR genotype for enhanced performance in some speed and power-oriented sports. In addition, RR genotype might also favour the ability to withstand exercise-induced muscle damage, while the beneficial influence of the XX genotype on aerobic exercise performance

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Section: The Role Of α-Actinin-3 To Reduce Exercise-induced Muscle Dasupporting

confidence: 85%

More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

et al. 2018

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“…A possible limitation of this initial study is the modest sample size (n = 42). Nevertheless, whilst modest, this sample size compares well to similar research in this field [42–44]. This sample size is also representative of the size of a typical soccer squad (first and reserve teams), giving it real-world validity.…”

Section: Discussionsupporting

confidence: 64%

The magnitude of Yo-Yo test improvements following an aerobic training intervention are associated with total genotype score

et al. 2018

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Recent research has demonstrated that there is considerable inter-individual variation in the response to aerobic training, and that this variation is partially mediated by genetic factors. As such, we aimed to investigate if a genetic based algorithm successfully predicted the magnitude of improvements following eight-weeks of aerobic training in youth soccer players. A genetic test was utilised to examine five single nucleotide polymorphisms (VEGF rs2010963, ADRB2 rs1042713 and rs1042714, CRP rs1205 & PPARGC1A rs8192678), whose occurrence is believed to impact aerobic training adaptations. 42 male soccer players (17.0 ± 1y, 176 ± 6 cm, 69 ± 9 kg) were tested and stratified into three different Total Genotype Score groups; “low”, “medium”and “high”, based on the possession of favourable polymorphisms. Subjects underwent two Yo-Yo tests separated by eight-weeks of sports-specific aerobic training. Overall, there were no significant differences between the genotype groups in pre-training Yo-Yo performance, but evident between-group response differentials emerged in post-training Yo-Yo test performance. Subjects in the “high” group saw much larger improvements (58%) than those in the ‘medium” (35%) and “low” (7%) groups. There were significant (p<0.05) differences between the groups in the magnitude of improvement, with athletes in the “high” and medium group having larger improvements than the “low” group (d = 2.59 “high” vs “low”; d = 1.32 “medium” vs “low”). In conclusion, the magnitude of improvements in aerobic fitness following a training intervention were associated with a genetic algorithm comprised of five single nucleotide polymorphisms. This information could lead to the development of more individualised aerobic training designs, targeting optimal fitness adaptations.

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“…This information shows that α-actinin-3-deficient individuals not only display increased levels of CK, but also experience higher reductions in muscle performance compared to R-allele carriers. The role of the ACTN3 gene in the level of muscle damage during an endurance competition has been considered more important than the role of other genes with potential effects on the response to muscle-damaging exercise [ 76 , 77 ]. Still, there is some conflicting data with studies that found no association between the ACTN3 genotype and increased exercise-induced muscle damage [ 78 , 79 ].…”

Section: Effect Of α-Actinin-3 Deficiency On Exercise-induced Muscmentioning

confidence: 99%

Effect of ACTN3 Genotype on Sports Performance, Exercise-Induced Muscle Damage, and Injury Epidemiology

Baltazar‐Martins

Gutiérrez-Hellín

Aguilar-Navarro

et al. 2020

Sports

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Genetic factors play a significant role in athletic performance and its related phenotypes such as power, strength and aerobic capacity. In this regard, the lack of a muscle protein due to a genetic polymorphism has been found to affect sport performance in a wide variety of ways. α-actinin-3 is a protein located within the skeletal muscle with a key role in the production of sarcomeric force. A common stop-codon polymorphism (rs1815739; R577X) in the gene that codes for α-actinin-3 (ACTN3) produces individuals with the XX genotype that lack expression of a functional α-actinin-3. In contrast, individuals with the R-allele (i.e., RX vs. RR genotypes) in this polymorphism can express α-actinin-3. Interestingly, around ~18% of the world population have the XX genotype and much has been debated about why a polymorphism that produces a lack of a muscle protein has endured natural selection. Several investigations have found that α-actinin-3 deficiency due to XX homozygosity in the ACTN3 R577X polymorphism can negatively affect sports performance through several structural, metabolic, or signaling changes. In addition, new evidence suggests that α-actinin-3 deficiency may also impact sports performance through indirect factors such a higher risk for injury or lower resistance to muscle-damaging exercise. The purpose of this discussion is to provide a clear explanation of the effect of α-actinin-3 deficiency due to the ACTN3 XX genotype on sport. Key focus has been provided about the effect of α-actinin-3 deficiency on morphologic changes in skeletal muscle, on the low frequency of XX athletes in some athletic disciplines, and on injury epidemiology.

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Optimum polygenic profile to resist exertional rhabdomyolysis during a marathon

Cited by 36 publications

References 40 publications

More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

The magnitude of Yo-Yo test improvements following an aerobic training intervention are associated with total genotype score

Effect of ACTN3 Genotype on Sports Performance, Exercise-Induced Muscle Damage, and Injury Epidemiology

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