More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

Coso, Juan Del; Hiam, Danielle; Houweling, Peter J.; Pérez, Laura; Eynon, Nir; Lucía, Alejandro

doi:10.1007/s00421-018-4010-0

Cited by 60 publications

(58 citation statements)

References 97 publications

(124 reference statements)

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“…Identification of genetic variants associated with sport and exercise-related traits is of great importance in terms of understanding the molecular basis of trainability. For example, deficiency of ACTN3 , the most replicated and studied sports performance-related gene,60 61 turned out to influence metabolic enzyme activity in skeletal muscle and a shift in the properties of fast fibres towards those characteristics of slow twitch fibres 62. These findings are consistent with that the null allele of the ACTN3 p.R577X polymorphism (ie, a point mutation that usually results in a non-functional protein product) are over-represented in endurance athletes than in power athletes in ancestrally diverse populations.…”

Section: Swot Analysismentioning

confidence: 56%

Sport and exercise genomics: the FIMS 2019 consensus statement update

et al. 2020

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Rapid advances in technologies in the field of genomics such as high throughput DNA sequencing, big data processing by machine learning algorithms and gene-editing techniques are expected to make precision medicine and gene-therapy a greater reality. However, this development will raise many important new issues, including ethical, moral, social and privacy issues. The field of exercise genomics has also advanced by incorporating these innovative technologies. There is therefore an urgent need for guiding references for sport and exercise genomics to allow the necessary advancements in this field of sport and exercise medicine, while protecting athletes from any invasion of privacy and misuse of their genomic information. Here, we update a previous consensus and develop a guiding reference for sport and exercise genomics based on a SWOT (Strengths, Weaknesses, Opportunities and Threats) analysis. This SWOT analysis and the developed guiding reference highlight the need for scientists/clinicians to be well-versed in ethics and data protection policy to advance sport and exercise genomics without compromising the privacy of athletes and the efforts of international sports federations. Conducting research based on the present guiding reference will mitigate to a great extent the risks brought about by inappropriate use of genomic information and allow further development of sport and exercise genomics in accordance with best ethical standards and international data protection principles and policies. This guiding reference should regularly be updated on the basis of new information emerging from the area of sport and exercise medicine as well as from the developments and challenges in genomics of health and disease in general in order to best protect the athletes, patients and all other relevant stakeholders.

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Section: Swot Analysismentioning

confidence: 56%

Sport and exercise genomics: the FIMS 2019 consensus statement update

et al. 2020

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“…A common genetic single nucleotide polymorphism (SNP)-ACTN3 R577X (rs1815739)influences muscle performance [8] and might affect injury incidence in endurance runners. This SNP leads to the replacement of an arginine (R) base with a premature stop codon (X) that halts the production of functional α-actinin-3 in fast-type muscle fibers.…”

Section: Introductionmentioning

confidence: 99%

Influence of the ACTN3 R577X genotype on the injury epidemiology of marathon runners

et al. 2020

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A common single nucleotide polymorphism in the ACTN3 gene might result in the complete deficiency of α-actinin-3 (i.e., XX genotype). It has been found that ACTN3 XX individuals have several traits related to lessened muscle performance. This study aimed to determine the influence, if any, of ACTN3 genotypes on injury incidence of marathoners during the year preceding to participating in a competitive marathon race. Using a cross-sectional experimental design, the type and conditions of sports injuries were documented for one year in a group of 139 marathoners. Injuries were recorded following a consensus statement on injuries in Athletics. Afterward, ACTN3 genotyping was performed, and injury epidemiology was compared among RR, RX, and XX genotypes. The distribution of the RR/RX/XX genotypes was 28.8/42.8/23.5%, respectively. A total of 67 injuries were recorded. The frequency of marathoners that reported any injury during the previous year was not different across the genotypes (55.0/38.8/40.6%, P = 0.241). Although the overall injury incidence was not different among genotypes (2.78/1.65/1.94 injuries/1000 h of running, P = 0.084), the likelihood of suffering an injury was higher in RR than in RX (OR = 1.93: 95%CI = 0.87-4.30), and higher than in XX (OR = 1.79: 0.70-4.58). There was no difference in the conditions, severity, body location, time of year, or leading cause of injury among genotypes. However, XX presented a higher frequency of sudden-onset injuries (P = 0.024), and the OR for muscle-type injuries was 2.0 (0.51-7.79) times higher compared to RR runners. Although XX marathoners did not have a higher overall incidence of injury, the OR in these runners for muscle-type injuries was superior to RR and RX runners. The likelihood of suffering a muscle injury, especially with a sudden-onset, was twice in XX than in RR endurance runners.

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“…Exactly as α‐actinin‐3, one of muscle sarcomeric isoforms, which can be trained by exercise to modify functioning of skeletal muscle, semicrystal segment in SPAM can also be well trained. Then, two key parameters, thermodynamic and crystallization behaviors, should be seriously investigated.…”

mentioning

confidence: 99%

A Single Polymer Artificial Muscle Having Dual‐Mode Contractibility, Temperature Sensibility, and Trainability through Enthalpy Change

Zhu

Zhang

2019

Adv Materials Technologies

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Artificial muscles (AMs) have high demand in many fields like robotics, medical devices, sensors, and actuators as well as prosthesis. To achieve what a natural muscle can do for humans in AMs, an ideal material should be cheap, soft, and have both isotonic and isometric contractions, high energy density, sensibility, and trainability. However, only a single function of AM, isotonic contraction, is considered in most existing studies, while other critical functions are always neglected. Moreover, current AMs are normally made of either hard metals or polymer composites, or special structures typically twisted coils of thermal expansion polymers. Here a single polymer artificial muscle (SPAM) with natural muscle molecular structures is reported to perform both isotonic and isometric contractions (dual‐mode), where spring structure is similar to titin and semicrystal likes actin. This SPAM can sense the surrounding temperature due to a crystal phase where enthalpy‐battery is installed. Then the trainability is proved by structural evolution which leads to contraction responsive to stimulated conditions with longitudinal strokes higher than 29%, and a specific work up to 473 J kg−1, respectively. This single soft polymer realizes significant multifunctions of an AM without any complicated structure design and composite system.

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More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

Cited by 60 publications

References 97 publications

Sport and exercise genomics: the FIMS 2019 consensus statement update

Sport and exercise genomics: the FIMS 2019 consensus statement update

Influence of the ACTN3 R577X genotype on the injury epidemiology of marathon runners

A Single Polymer Artificial Muscle Having Dual‐Mode Contractibility, Temperature Sensibility, and Trainability through Enthalpy Change

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