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Detection of Gene Doping[edit]

The World Anti-Doping Agency (WADA) is the main regulatory organization looking into the issue of the detection of gene doping.[1] Both direct and indirect testing methods are being researched by the organization. Directly detecting the use of gene therapy usually requires the discovery of recombinant proteins or gene insertion vectors, while most indirect methods involve examining the athlete in an attempt to detect bodily changes or structural differences between endogenous and recombinant proteins. [2]

Indirect methods are by nature more subjective, as it becomes very difficult to determine which anomalies are proof of gene doping, and which are simply natural, though unusual, biological properties. For example, Eero Mäntyranta, an Olympic cross country skier, had a mutation which made his body produce abnormally high amounts of red blood cells. It would be very difficult to determine whether or not Mäntyranta's red blood cell levels were due to an innate genetic advantage, or an artificial one.[3] Other examples include Lance Armstrong, a professional cyclist, whose body produces approximately half as much lactic acid as an average person, thus improving his performance in endurance sports such as cycling. [4]

Targets for Gene Doping[edit]

Myostatin[edit]

Myostatin is a protein responsible for inhibiting muscle differentiation and growth.[5] Removing the myostatin gene or otherwise limiting its expression leads to an increase in hypertrophy and power in muscles.[5] Whippets with a single mutation in their myostatin gene have been found to be much faster than their wild-type counterparts, while whippets with two mutated copies have significantly increased musculature compared to wild-type and single mutation whippets.[6] Similar results have also been found in mice, producing so called "Schwarzenegger mice".[7] Humans have also demonstrated the same results; a German boy with a mutation in both copies of the myostatin gene was born with well-developed muscles.[8] The advanced muscle growth continued after birth, and could lift weights of 3kg at the age of 4.[8] Reducing or eliminating myostatin expression is thus seen as a possible future candidate for increasing muscle growth for the sake of increasing athletic performance in humans.[8]

Erythropoietin (EPO)[edit]

Erythropoietin is a hormone which controls red blood cell production. Athletes have used EPO as a performance-enhancing substance for many years, though exclusively by receiving exogenous injections of the hormone. Recent studies suggest it may be possible to introduce another EPO gene into an animal in order to increase EPO production endogenously.[8] EPO genes have been successfully inserted into mice and monkeys, and were found to increase hematocrit production by as much as 80% in those animals.[8] However, the endogonous and transgene derived EPO elicited autoimmune responses in some animals in the form of severe anemia.[8]



Another potential concern is the use of gene therapy among Paralympic athletes. Gene doping is a banned process for all Paralympic athletes, but it is extremely difficult to differentiate these two concepts. [9] The International Paralympic Committee


  1. ^ World Anti Doping Agency. (October 2009). Gene Doping. In World Anti-Doping Agency. Retrieved April 11, 2012, from http://www.wada-ama.org/en/Science-Medicine/Science-topics/Gene-Doping/.
  2. ^ Oliveria, R.S., Collares, T.F., Smith, K.R., Seixas, F.K. (2011). The use of genes for performance enhancement doping or therapy?. Brazilian Journal of Medical and Biological Research, 44 (12), 1194-1201
  3. ^ Sweeney, H.L. (July 2004) “Gene Doping.” Scientific American, pp. 63-69.
  4. ^ Stefan Lovgren. (July 22, 2005). The Science of Lance Armstrong: Born and Built, to Win. In National Geographic. Retrieved April 11, 2012, from http://news.nationalgeographic.com/news/2005/07/0722_050722_armstrong.html.
  5. ^ a b Myostatin - The Genetic Factor in Muscle Building, 'Myostatin Info', Retrieved April 6, 2012, http://www.myostatininfo.com/
  6. ^ Mosher DS, Quignon P, Bustamante CD, Sutter NB, Mellersh CS, et al. (2007) A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote Dogs. PLoS Genet 3(5): e79. doi:10.1371/journal.pgen.0030079
  7. ^ Cieszczyk, P., Maciejewska, A., Sawczuk, M. (2009). Gene Doping in Sport. "Biology of Exercise", '5'(1). doi: 10.4127/jbe.2009.0021.
  8. ^ a b c d e f Halsma, H.J., & de Hon, O. (2006). Gene Doping. International Journal of Sports Medicine, 27, 257-266. doi: 10.1055/s-2006-923986.
  9. ^ Wolbring, G. (2008). Oscar Pistorius and the future nature of Olympic, Paralympic and other sports. SCRIPT-ed, 5(1). doi: 10.2966/scrip.050108.139.