These individuals have a complete absence of α-actinin-3, which appears to reduce the proportion of fast-twitch muscle fibers and increase the proportion of slow-twitch fibers in the body. Some people have this variant in both copies of the gene this genetic pattern (genotype) is referred to as 577XX. A variant in this gene, called R577X, leads to production of an abnormally short α-actinin-3 protein that is quickly broken down. The ACTN3 gene provides instructions for making a protein called alpha (α)-actinin-3, which is predominantly found in fast-twitch muscle fibers.
These genes influence the fiber type that makes up muscles, and they have been linked to strength and endurance. The best-studied genes associated with athletic performance are ACTN3 and ACE. Many studies have investigated variations in specific genes thought to be involved in these traits, comparing athletes with nonathletes. Studies focused on similarities and differences in athletic performance within families, including between twins, suggest that genetic factors underlie 30 to 80 percent of the differences among individuals in traits related to athletic performance. Other traits related to athleticism include the maximum amount of oxygen the body can deliver to its tissues (aerobic capacity), muscle mass, height, flexibility, coordination, intellectual ability, and personality. Fast-twitch muscle fibers contract quickly but tire rapidly these fibers are good for sprinting and other activities that require power or strength.
Slow-twitch muscle fibers contract slowly but can work for a long time without tiring these fibers enable endurance activities like long-distance running. Skeletal muscles are made up of two types of muscle fibers: slow-twitch fibers and fast-twitch fibers. Many physical traits help determine an individual’s athletic ability, primarily the strength of muscles used for movementĪnd the predominant type of fibers that compose them. Athletic performance is a complex trait that is influenced by both genetic and environmental factors.
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