GENETICS OF ATHLETIC PERFORMANCE
Dr. Katie Dabrowski, PT, DPT
Some beginning concepts
Darwin’s theory of natural selection = individuals with traits that are favorable are more likely to survive and reproduce.
Those who are “stronger” are better equipped to handle struggles of the world
Each individual has a limited capacity to perform exercise – but what determines the limit to that capacity?
It is proposed that up to 50% of physical fitness is due to genetics
Athletes may be inherently predisposed to be more fit
But there may be a trade-off – genetically skilled athletes in one domain may be lesser-than in another domain (a sprinter with power and strength vs. lacking endurance, for example)
What genes are responsible for an athlete dominating in one sport (let’s say a sprint) rather than another (like a marathon)?
Components of Performance
Body morphology: Height and body composition
Aerobic endurance: Ability to sustain an aerobic effort over time.
Requires the ability of the cardiovascular system to deliver oxygen to working muscles, and the ability of those muscles to utilize that oxygen
Quantified via VO2max, but other factors like economy and ventilatory threshold influence performance in addition to VO2max
Muscular strength: Ability of muscle to generate force.
Quantified via one rep max
Cognitive factors
Injury susceptibility
Nutrition
Trainability
*
Performance Enhancing Polymorphisms (PEPs)
PEPs = Genetic variants that, when inherited, can lead to improved athletic performance
200+ PEPs exist
Angiotensin-Converting Enzyme
ACE gene contains the first PEP to be identified
ACE catalyzes the conversion of angiotensin I into angiotensin II, which affects vasoconstriction and regulation of salt and water homeostasis via releasing aldosterone
ACE is also responsible for regulating inflammatory reactions to lung injury, respiratory drive, erythropoiesis, tissue oxygenation, and regulation of skeletal muscle efficiency
Angiotensin-Converting Enzyme
Most common polymorphism associated with ACE is of the I allele
This polymorphism is associated with improved performance in endurance sports due to higher circulating and tissue ACE activity
ACE polymorphisms and athletic performance were first studied in Australian National Rowers at the pre-Olympic trials in 1996
Researchers found significantly increased frequency of I allele in elite rowers compared to normal controls
Another study investigated the role of ACE polymorphisms on body composition by training men over a 10-week period
Individuals with the I genotype had a greater anabolic response
And another study found a relationship between the I allele and mountaineering – individuals who engage in high altitude mountaineering ascending over 8000 meters without supplemental oxygen show an excess in the ACE I allele frequency
ACTN3 R577X
This gene codes for an important protein found exclusively in the fast type II muscle fibers used du
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