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German Profs Crack Gene Doping Code

Sep 3, 2010  - Craig Lord

Great news for cancer patients and others with life-threatening diseases, bad news for those plotting to take cheating to a new level in human development, good news for clean sport: scientists at universities in Tübingen and Mainz, in Germany, have developed a test that can provide conclusive proof of gene doping, according to a paper published by scientific journal Gene Therapy.

"For the first time, a direct method is now available that uses conventional blood samples to detect doping via gene transfer and is still effective if the actual doping took place up to 56 days before," said Professor Perikles Simon, MD, PhD from Johannes Gutenberg University in Mainz, Germany.  "This represents a relatively low-cost method of detecting several of the most common doping genes." Prof. Simon was speaking at a presentation of the process.

"At the very least, the risk of being discovered months after the gene transfer has taken place should deter even the most daring dopers," Prof. Simon believes. The World Anti Doping Agency (WADA) financed the research over the past four years at a cost of US$980,000. Money well spent.

Many had believed that it would be impossible to prove that an athlete had been gene doped. Apparently not. "The process of inserting individual genes in specific body cells stems from the idea of curing severe illnesses with this new technology. It was previously thought that it would only be possible to detect gene doping via gene transfer using an extremely costly indirect test procedure from the field of molecular medicine," said gene therapist Professor Michael Bitzer, MD at the University Hospital of Eberhard Karls University in Tübingen.

The gene doping study conducted by the scientists concludes that the new test provides clear "yes-or-no answers" based on whether or not so-called transgenic DNA is present in blood samples. Transgenic DNA or tDNA does not stem from the person being tested but has been transferred into their body - often via viruses - in order to create performance-enhancing substances such as erythropoetin (EPO) for forming red blood cells.

"The body of a gene-doped athlete produces the performance-enhancing hormones itself without having to introduce any foreign substances to the body. Over time, the body becomes its own doping supplier," explained Simon. In 2006, as a member of the University Hospital in Tübingen, he developed a procedure that enables the tiniest traces of transgenic DNA to be detected in blood. The efficiency of this procedure has now been proven for the first time in laboratory mice. A key component of the procedure on mice involves inserting the foreign genetic material precisely to the muscles around a small puncture area.

That act triggers excess production of a hormone, which prompts the generation of new blood vessels. Even two months after the genes were injected into the muscles, researchers were able to differentiate clearly between the mice subjected to gene doping and those that were not. "The development of a reliable method for detecting misuse of gene transfer will be used to ensure that this new technology, for which the side effects are only partially known, is used exclusively in the treatment of severe diseases," said Prof. Bitzer. 

Over the next few months, the University Hospital in Tübingen is planning a relevant therapy study for advanced tumor patients.

The "safe and sensitive" detection procedure was proven in a specificity test on 327 blood samples taken from professional and recreational athletes, te conclusion of the German researchers simple: athletes will no longer profit from the misuse of gene therapy for doping purposes.