Related Experiment Video
Updated: May 9, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
ACTN3 R577X genotype is associated with sprinting in elite Japanese athletes
E Mikami1, N Fuku2, H Murakami3
1Graduate School of Sport Sciences, Waseda University, Tokorozawa-city, Japan.
International Journal of Sports Medicine
|July 23, 2013
Summary
The alpha-actinin-3 (ACTN3) R577X genotype is linked to sprint and power athletic performance in elite Japanese track and field athletes. This genetic variant is particularly associated with faster 100m sprint times.
Area of Science:
- Sports Science
- Human Genetics
- Exercise Physiology
Background:
- The ACTN3 R577X genotype is a known determinant of sprint and power phenotypes in various elite athlete populations.
- Research on the ACTN3 R577X genotype's association with athletic performance in elite Asian athletes remains limited.
Purpose of the Study:
- To investigate the association between the ACTN3 R577X genotype and elite Japanese track and field athletes.
- To determine if the ACTN3 R577X genotype influences sprint/power versus endurance/middle-power performance in this cohort.
Main Methods:
- Genotyping of the ACTN3 R577X polymorphism in 299 elite Japanese track and field athletes (134 sprint/power, 165 endurance/middle-power) and 649 controls.
- Comparison of genotype frequencies between athlete groups and controls using the R-dominant model.
- Analysis of personal best times for 100m and 400m sprints in relation to ACTN3 R577X genotype.
Main Results:
- Sprint/power athletes exhibited a higher frequency of the RR + RX genotype compared to controls (82.8% vs. 73.7%, P=0.025).
- No significant difference in genotype frequency was observed between endurance/middle-power athletes and controls (76.4% vs. 73.7%, P=0.48).
- Athletes with the RR + RX genotype had significantly faster 100m personal best times than those with the XX genotype (10.42s vs. 10.64s, P=0.042), but this was not observed for 400m times.
Conclusions:
- The ACTN3 R577X genotype is associated with sprint/power performance in elite Japanese track and field athletes.
- This association is particularly evident in short sprint performance (100m).
- The findings support the role of ACTN3 genotype in elite athletic performance, specifically for power-oriented disciplines.
More Related Videos
Related Concept Videos
01:13Actin Polymerization and Cell Motility
Actin is a family of globular proteins that are highly abundant in eukaryotic cells. It makes up approximately 1-5% of total cell protein concentration. Actin monomers polymerize to form a complex network of polarized filaments, the actin cytoskeleton, that plays a crucial role in many cellular processes, including cell motility, division, endocytosis, and metastasis of cancer cells.
Actin cytoskeleton dynamics can produce pushing, pulling, and resistance forces that help the cell to migrate.
Actin cytoskeleton dynamics can produce pushing, pulling, and resistance forces that help the cell to migrate.
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
01:48ATP Synthase: Mechanism
In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.