The genetic profiles of elite athletes

Elite endurance athletes are strongly suspected to have differing genetic profiles from sub-elite endurance athletes and non-athletes. This thesis will contribute to the developing knowledge in this area, providing a more detailed analysis of the genetic profile of elite endurance athletes in the sport of marathon running. Identifying ‘advantageous’ genetic characteristics would be a significant development. The insight provided about the underlying physiological mechanisms may have implications for both sport, exercise and for the prevention and treatment of disease. Numerous physiological systems detailing a complex phenotype are required for elite endurance performance therefore it is likely that ‘elite status’ is polygenic. Eight ‘endurance’ alleles have previously demonstrated discrete associations with elite endurance athlete status. The human ACE gene contains a restriction fragment length polymorphism consisting of the presence (insertion, I) or absence (deletion, D) of a 287 base pair Alu repeat sequence in Intron 16. The renin-angiotensin aldosterone system (RAAS) plays a homeostatic role in the human circulation. Renin catalyses the conversion of Angiotensinogen (AGT) to angiotensin I. Angiotensin I-converting enzyme is responsible for the breakdown of vasodilator kinins while catalysing the formation of the vasoconstrictor angiotensin II. Angiotensin II stimulates adrenal aldosterone release, leading to salt and water retention. These two elements maintain blood pressure and volume before, during and after a marathon competition and would therefore influence aerobic power, V̇O2 kinetics The alpha actinins cross-link with actin at the z- lines of skeletal muscle and are therefore major contributory structural components. ACTN3 is responsible for the stabilisation of the contractile apparatus of the sarcomere during exercise. However, knock out mice have shown enhanced enzyme expression associated with oxidative capacity and superior endurance running performance and improved recovery time. ...