HUMAN ATHLETIC PERFORMANCE, DOPING IMPLICATIONS, AND POSSIBLE THERAPEUTIC APPROACHES AS INFLUENCED BY GENETIC MUTATIONS IN EPOR, ACTN3, AND MSTN
PublisherThe University of Arizona.
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AbstractHuman genes are susceptible to mutation. Once mutated, these genes can confer drastic changes within the body that lead to miraculous advantages in human athletic performance, while also lending themselves as targets for doping and even therapeutic options for certain diseases. EPOR, a gene that codes for a receptor which signals red blood cell production, was found to be mutated in a world-class cross country skier. The results of this mutation were much higher endurance, leading to a possible interest in doping this gene for increased capacity for endurance athletes, as well as a possible treatment for those with chronic hypoxia or anemia. ACTN3, a gene that codes for a protein that structures and organizes fast-twitch muscle fibers, was upregulated in elite sprinters, as more of this gene allowed them to get more quick, explosive power out of their muscles. Similarly, this gene was identified as a potential target for doping in the hopes of increasing speed, but was found to be a detrimental candidate for therapeutics. Finally, MSTN, a gene that acts as a limiting factor in muscle growth, was looked at when a loss of function mutation occurred. Without MSTN, skeletal muscle grew to immense levels, resulting in much higher lean body mass and force generation capacity. Thus, MSTN was also identified as a candidate for gene doping, as well as a great option for therapeutic approaches in those with muscle wasting diseases.
Degree ProgramMolecular and Cellular Biology