Artículo
Effect of ACTN3 genotype on sports performance, exercise-induced muscle damage, and injury epidemiology
Autor/es | Baltazar Martins, Gabriel
Gutiérrez Hellín, Jorge Aguilar Navarro, Millán Ruiz Moreno, Carlos Moreno Pérez, Víctor López Samanes, Álvaro Domínguez Herrera, Raúl del Coso, Juan |
Departamento | Universidad de Sevilla. Departamento de Motricidad Humana y Rendimiento Deportivo |
Fecha de publicación | 2020-07-13 |
Fecha de depósito | 2023-05-18 |
Publicado en |
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Resumen | 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 ... 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. |
Cita | Baltazar Martins, G., Gutiérrez Hellín, J., Aguilar Navarro, M., Ruiz Moreno, C., Moreno Pérez, V., López Samanes, Á.,...,del Coso, J. (2020). Effect of ACTN3 genotype on sports performance, exercise-induced muscle damage, and injury epidemiology. Sports, 8 (7), 99. https://doi.org/10.3390/sports8070099. |
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