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Gene doping: an overview and current implications for athletes
  1. Toon van der Gronde1,
  2. Olivier de Hon2,
  3. Hidde J Haisma3,
  4. Toine Pieters1,4
  1. 1Department of Pharmacoepidemiology & Clinical Pharmacology, Utrecht Institute for Pharmaceutical Sciences (UIPS), Utrecht University, Utrecht, The Netherlands
  2. 2Anti-Doping Authority the Netherlands, Capelle aan den IJssel, The Netherlands
  3. 3Department of Pharmaceutical Gene Modulation, Groningen Research Institute of Pharmacy, Groningen University, The Netherlands
  4. 4Community Genetics (EMGO), VU Medical Centre, Amsterdam, The Netherlands
  1. Correspondence to Prof. Dr Toine Pieters, Department of Pharmacoepidemiology & Clinical Pharmacology, Utrecht Institute for Pharmaceutical Sciences (UIPS), PO Box 80 082, Utrecht 3584 CG, The Netherlands; t.pieters{at}uu.nl

Abstract

The possibility of gene doping, defined as the transfer of nucleic acid sequences and/or the use of normal or genetically modified cells to enhance sport performance, is a real concern in sports medicine. The abuse of knowledge and techniques gained in the area of gene therapy is a form of doping, and is prohibited for competitive athletes. As yet there is no conclusive evidence that that gene doping has been practiced in sport. However, given that gene therapy techniques improve continuously, the likelihood of abuse will increase.

A literature search was conducted to identify the most relevant proteins based on their current gene doping potential using articles from Pubmed, Scopus and Embase published between 2006 and 2011. The final list of selected proteins were erythropoietin, insulin-like growth factor, growth hormone, myostatin, vascular endothelial growth factor, fibroblast growth factor, endorphin and enkephalin, α actinin 3, peroxisome proliferator-activated receptor-delta (PPARδ) and cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C). We discuss these proteins with respect to their potential benefits, existing gene therapy experience in humans, potential risks, and chances of detection in current and future anti-doping controls.

We have identified PPARδ and PEPCK-C as having high potential for abuse. But we expect that for efficiency reasons, there will be a preference for inserting gene target combinations rather than single gene doping products. This will also further complicate detection.

  • Athletics
  • Doping
  • Drug control
  • Genetics/sex testing
  • Elite performance

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