June 21, 2004BioEssays
A gene for speed? The evolution and function of α‐actinin‐3
Key result
The ACTN3 R577X genotype, which causes alpha-actinin-3 deficiency in approximately 18% of the human population, is strongly associated with athletic performance.
Population
Human population and athletes
Design
Review
Authors
Discussion
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Member takes
Implication
High ACTN3 deficiency prevalence suggests functional compensation in muscle; leaves open its clinical effects on performance and disease.
Structured PICO
P
Population
Human population (specifically discussing the ~18% deficient in alpha-actinin-3 due to R577X polymorphism) and athletes
The ACTN3 R577X polymorphism is strongly associated with athletic performance and provides a case study in molecular evolution.
Cite This Study
MacArthur et al. (2004) conducted a review in alpha-actinin-3 deficiency. ACTN3 R577X genotype was evaluated. The ACTN3 R577X genotype, which causes alpha-actinin-3 deficiency in approximately 18% of the human population, is strongly associated with athletic performance.