Gene Doping

by SYED HAIDER JAFRI

The human genome is, in essence, the blueprint of our being. It carries the code that allows our body to produce a large proportion of the components necessary for existence and survival; it is the base. With such rapid advancements in the field of science, interest in gene manipulation has been steadily rising with regards to therapy of certain conditions. Of course, in cases of benefit, abuse is common and although gene doping trials are only in their primary stages, its potential for abuse has already started to be taken under consideration. The World Anti Doping Agency (WADA) categorizes prohibited materials by Substance and Method; the latter containing Gene Doping.  

  Skwarecki, B. (2015). How Much Does Genetics Really Affect Your Fitness?. [online] Vitals.lifehacker.com. Available at: https://vitals.lifehacker.com/how-much-does-genetics-really-affect-your-fitness-1747333767  Illustration by Tara Jacoby

Skwarecki, B. (2015). How Much Does Genetics Really Affect Your Fitness?. [online] Vitals.lifehacker.com. Available at: https://vitals.lifehacker.com/how-much-does-genetics-really-affect-your-fitness-1747333767 Illustration by Tara Jacoby

“ 1. The use of polymers of nucleic acids or nucleic acid analogues.

2. The use of gene editing agents designed to alter genome sequences and/or the transcriptional or epigenetic regulation of gene expression.

3. The use of normal or genetically modified cells. ” [1]

 While traditional doping methods involve the use of hormones or growth factors to boost the body’s response, the above mentioned refers to more profound change in the body itself i.e. to make the athlete intrinsically better. This is done either directly- by adding the gene into the DNA of cells already in the body (in vivo) or by modifying patient cells in a lab and reintroducing the cells into the body (ex vivo).[2]

 fig 2. © Peter Bull Art Studio

fig 2. © Peter Bull Art Studio

Although these methods have been mainly limited to animal models, there have been a handful of promising results in human studies- for the purpose of therapy. One interesting case is that of Repoxygen in 2002, a treatment developed by Oxford BioMedica for anemia associated with chemotherapy. The idea was to introduce a modified gene for Erythropoeitin (EPO), the main kickstart hormone for the making of red blood cells, that would turn on when oxygen levels were low and help relieve the anemic condition. This was subsequently banned by WADA in 2009 when German coach Thomas Springstein, earlier on in 2006, applied the method on young female runners to boost their performance. In other situations, such as when the gene for Vascular Endothelial Growth Factor (VEGF) was placed in trial patients with severe lack of blood flow in their extremity, it was shown to increase the number of blood vessels and hence, improve their blood flow. Introduction of genes encoding hormones such as Growth Hormone (GH), and Insulin-like Growth Factor (IGF-1), can lead to an increase in muscle size and mass. Testing for gene therapy in relation to GH and IGF-1 is currently being funded by the WADA.[3]  [4]


The human body is in a constant state of regulation, i.e. Homeostasis. Any form of dysregulation that hasn’t be already accounted for by the body itself can lead to detrimental effects to the user; this applies for abused growth factors and hormones and even more so when one plans to change the body’s blueprints themselves (the genome). The consequences can be viral infections, heart attack, stroke, damage of muscle, tendon/ligament rupture and even cancer. The price associated with increased strength, speed and endurance.

In short, gene doping has the potential to be expressed in an almost undetectable manner with current anti-doping tests. Although gene alterations are, for the most part, still theoretical in essence, their potential has been steadily increasing.

Peroxisome proliferator-activated receptor (PPAR) is a family of receptors involved in control of weight, skeletal muscle metabolism and insulin sensitivity. In addition to this, it also induces ‘de novo’ formation of Slow Twitch (type I) and Fast Twitch (type II) skeletal muscle fibres; type I is to do with endurance, used more in long distance running whereas type II is appropriate for the short, powerful bursts associated with sprinting.[5] An overexpression of such a receptor in conjunction with an agonist- a substance which binds to receptors and increases their activity- would undoubtedly enhance performance. One such agonist is GW1516, developed by GlaxoSmithKline. GW1516 remodeled skeletal muscle (in mice) and raised their endurance levels by 75 percent on a treadmill.”[6] The WADA has been taking this into account and developed and officially approved a test for “GW1516”.

One other example is in relation to the gene coding for Myostatin; ‘Myo-‘ meaning muscle and ‘–statin’ meaning suppression. Suppression of this “suppressor gene” or its protein product will lead to an increase in size and number of muscle cells. Although this sounds favorable, the detrimental effects can range anywhere from bone and tendon injuries to a heart attack due to an overload of the musculoskeletal system. [7]

Anna Baoutina and colleagues at the National Measurement Institute in Sydney, Australia developed a technique for testing EPO gene doping by comparing the sequence of the natural gene and the synthetic one- the latter didn’t contain 4 special ‘intron’ sequences. Since gene transfer is performed through viral/bacterial transport into the cell and DNA, another way to test would be to “search for proteins in blood that are unique to the viruses (or bacteria).”4

With current technology the most conclusive testing for doping would be done via muscle biopsy i.e to gain cells directly from the tissue and check the DNA sequence. Of course, this is too invasive a procedure to be used unless there is sufficient evidence of abuse.

The era we live in is defined by the rate of scientific progression. Advances in the medical field, although beneficial to the majority, leave a gateway for misuse. If there do happen to be athletes performing with the advantage garnered from this method, it would involve back-door methods not yet available to the public.

  

Works Cited

https://www.wada-ama.org/en/content/what-is-prohibited/prohibited-at-all-times/gene-doping

 Brzeziańska E, Domańska D, Jegier A. GENE DOPING IN SPORT – PERSPECTIVES AND RISKS. Biology of Sport. 2014;31(4):251-259. doi:10.5604/20831862.1120931.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203840/.

 

Everts, S. (2018). Athletes at Rio Olympics face advanced antidoping technology | August 8, 2016 Issue - Vol. 94 Issue 32 | Chemical & Engineering News. [online] Cen.acs.org. Available at: https://cen.acs.org/articles/94/i32/Athletes-Rio-Olympics-face-advanced.html.

 

Miah, A. (2009). European sport ministers discuss ethics, gene doping. [online] Gmathletes.wordpress.com. Available at: https://gmathletes.wordpress.com/tag/gene-doping/

 

Skwarecki, B. (2015). How Much Does Genetics Really Affect Your Fitness?. [online] Vitals.lifehacker.com. Available at: https://vitals.lifehacker.com/how-much-does-genetics-really-affect-your-fitness-1747333767                          Illustration by Tara Jacoby

[1] https://www.wada-ama.org/en/content/what-is-prohibited/prohibited-at-all-times/gene-doping

[2] Brzeziańska E, Domańska D, Jegier A. GENE DOPING IN SPORT – PERSPECTIVES AND RISKS. Biology of Sport. 2014;31(4):251-259. doi:10.5604/20831862.1120931.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203840/.

3 Brzeziańska E, Domańska D, Jegier A. GENE DOPING IN SPORT – PERSPECTIVES AND RISKS. Biology of Sport. 2014;31(4):251-259. doi:10.5604/20831862.1120931.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203840/.

[4] Everts, S. (2018). Athletes at Rio Olympics face advanced antidoping technology | August 8, 2016 Issue - Vol. 94 Issue 32 | Chemical & Engineering News. [online] Cen.acs.org. Available at: https://cen.acs.org/articles/94/i32/Athletes-Rio-Olympics-face-advanced.html.

[5] Brzeziańska E, Domańska D, Jegier A. GENE DOPING IN SPORT – PERSPECTIVES AND RISKS. Biology of Sport. 2014;31(4):251-259. doi:10.5604/20831862.1120931.

[6] Miah, A. (2009). European sport ministers discuss ethics, gene doping. [online] Gmathletes.wordpress.com. Available at: https://gmathletes.wordpress.com/tag/gene-doping/

[7] [7] Brzeziańska E, Domańska D, Jegier A. GENE DOPING IN SPORT – PERSPECTIVES AND RISKS. Biology of Sport. 2014;31(4):251-259. doi:10.5604/20831862.1120931.

Web Statistics Real Time Web Analytics Web Analytics