Dataset Information

ACTN3: More than Just a Gene for Speed.

ABSTRACT: Over the last couple of decades, research has focused on attempting to understand the genetic influence on sports performance. This has led to the identification of a number of candidate genes which may help differentiate between elite and non-elite athletes. One of the most promising genes in that regard is ACTN3, which has commonly been referred to as "a gene for speed". Recent research has examined the influence of this gene on other performance phenotypes, including exercise adaptation, exercise recovery, and sporting injury risk. In this review, we identified 19 studies exploring these phenotypes. Whilst there was large variation in the results of these studies, as well as extremely heterogeneous cohorts, there is overall a tentative consensus that ACTN3 genotype can impact the phenotypes of interest. In particular, the R allele of a common polymorphism (R577X) is associated with enhanced improvements in strength, protection from eccentric training-induced muscle damage, and sports injury. This illustrates that ACTN3 is more than just a gene for speed, with potentially wide-ranging influence on muscle function, knowledge of which may aid in the future personalization of exercise training programmes.

SUBMITTER: Pickering C

PROVIDER: S-EPMC5741991 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

<i>ACTN3:</i> More than Just a Gene for Speed.

Pickering Craig C Kiely John J

Frontiers in physiology 20171218

Over the last couple of decades, research has focused on attempting to understand the genetic influence on sports performance. This has led to the identification of a number of candidate genes which may help differentiate between elite and non-elite athletes. One of the most promising genes in that regard is <i>ACTN3</i>, which has commonly been referred to as "a gene for speed". Recent research has examined the influence of this gene on other performance phenotypes, including exercise adaptatio ...[more]

PMID: 29326606

Similar Datasets

Project description:BackgroundAbility of athletes in speed or endurance contests somehow is determined by inherited muscle fiber types. One of the important genes involved in sport genetics is ACTN3 that is located on chromosome 11q13-q14 and encodes α-actinin-3, which belongs to highly conserved family of α-actinin proteins. Genetic analysis of α-actinin-3 gene has showed a polymorphism R577X (rs1815739), which results in premature stop codon and leads to non functional α-actnin-3 protein. ACTN3 genotype can contribute to the performance in elite and endurance activities. R577X polymorphism replaces arginine by stop codon. Individuals homozygous for R577 have full copy of α-actinin-3 and elite and power sprint athletes show significantly higher frequency of 577R allele. In the other hand, some studies represented that X allele have high level of frequency in endurance athletes. However, this data remains controversial Since there is no information about the frequency of ACTN3 genotype in our population therefore as the first step it is essential to determine the genetic background of Iranian population. The objective of this study was to genotype normal Iranian individuals to determine the prevalence of each allele in our population.MethodsWe used PCR-RFLP method for genotyping 210 normal individuals.ResultsTotal of 210 Iranian normal individuals for distribution of R577X and R alleles were genotyped. The different genotypes were as follow; 24% RR (50/210), 65%RX (136/210) and 11%XX (24/210), with allelic distribution of 0.56 and 0.44 for 577R and 577X alleles of ACTN3.ConclusionThis allelic distribution for Iranian's is more close to Caucasian population, which is concurrent with the route of ancient human's migration from Iran Plateau toward Europe. Our results showed no different patterns of allelic distribution among female and males, which was the same in other studies too, although some differences has been reported in the studies on athletes population.

Project description:BackgroundHamstring strain injuries are associated with significant time away from sport and high reinjury rates. Recent evidence suggests that hamstring injuries often occur during accelerative running, but investigations of hamstring mechanics have primarily examined constant speed running on a treadmill. To help fill this gap in knowledge, this study compares hamstring lengths and lengthening velocities between accelerative running and constant speed overground running.MethodsWe recorded 2 synchronized videos of 10 participants (5 female, 5 male) during 6 accelerative running trials and 6 constant speed running trials. We used OpenCap (a markerless motion capture system) to estimate body segment kinematics for each trial and a 3-dimensional musculoskeletal model to compute peak length and step-average lengthening velocity of the biceps femoris (long head) muscle-tendon unit. To compare running conditions, we used linear mixed regression models with running speed (normalized by the subject-specific maximum) as the independent variable.ResultsAt running speeds below 75% of top speed accelerative running resulted in greater peak lengths than constant speed running. For example, the peak hamstring muscle-tendon length when a person accelerated from running at only 50% of top speed was equivalent to running at a constant 88% of top speed. Lengthening velocities were greater during accelerative running at all running speeds. Differences in hip flexion kinematics primarily drove the greater peak muscle-tendon lengths and lengthening velocities observed in accelerative running.ConclusionHamstrings are subjected to longer muscle-tendon lengths and faster lengthening velocities in accelerative running compared to constant speed running. This provides a biomechanical explanation for the observation that hamstring strain injuries often occur during acceleration. Our results suggest coaches who monitor exposure to high-risk circumstances (long lengths, fast lengthening velocities) should consider the accelerative nature of running in addition to running speed.

Dataset Information

ACTN3: More than Just a Gene for Speed.

Publications

<i>ACTN3:</i> More than Just a Gene for Speed.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets