Gene manipulation will have its most significant impact in treating diseases and promoting health rather than enhancing athletic abilities, although sports will certainly benefit from this research. Scientists are already studying whether gene therapies can help people suffering from muscle diseases such as muscular dystrophy. "A lot has been learned about how we can make muscles stronger and bigger and contract with greater force," says Theodore Friedmann, a geneticist at the University of California, San Diego, and head of a gene-doping advisory panel for the World Anti-Doping Agency (WADA). Scientific studies have introduced IGF-1 protein to mouse tissue to prevent the normal muscle degradation during aging. "Somewhere down the road efforts could be made to accomplish the same in people," he adds. "Who would not stand in line for something like this?"
Gene therapy has already proved useful in studies unrelated to muscle treatment. In December 2011, for example, a team of British researchers reported in The New England Journal of Medicine that they were able to treat six patients with hemophilia B—a disease in which blood cannot clot properly to control bleeding—by using a virus to deliver a gene enabling them to produce more of the clotting agent, factor IX.
Hard targets
Despite experiments with IGF-1 and MSTN protein levels in mouse muscle, identifying which genes are directly responsible for athletic prowess is a complicated matter. "What we've learned over the past 10 years since the sequencing of the human genome is that there's a heck of a lot more complexity here than we first envisioned," says Stephen Roth, a University of Maryland associate professor of exercise physiology, aging and genetics. "Everybody wants to know what are the genes that are contributing to athletic performance broadly or muscular strength or aerobic capacity or something like that. We still don't have any hard targets solidly recognized by the scientific community for their contribution to athletic performance."
By 2004 scientists had discovered more than 90 genes or chromosomal locations they thought were most responsible for determining athletic performance. Today the tally has risen to 220 genes.
Even with this lack of certainty, some companies have already tried to exploit what has been learned so far to market genetic tests they claim can reveal a child's athletic predispositions. Such companies "are sort of cherry-picking some literature and saying, 'Oh, these four or five gene variations are going to tell you something,'" Roth explains. But the bottom line is the more studies we've done, the less certain we are that any of these genes are really strong contributors by themselves."
Atlas Sports Genetics, LLC, in Boulder, Colo., began selling a $149 test in December 2008 the company said could screen for variants of the gene ACTN3, which in elite athletes is associated with the presence of the protein alpha-actinin-3 that helps the body produce fast-twitch muscle fibers. Muscle in lab mice that lacks alpha-actinin-3 acts more like slow-twitch muscle fiber and uses energy more efficiently, a condition better suited to endurance than mass and power. "The difficulty is that more advanced studies have not found exactly how loss of alpha-actinin-3 affects muscle function in humans," Roth says.
ACE, another gene studied in relation to physical endurance, has rendered uncertain results. Researchers originally argued that people with one variant of ACE would be better at endurance sports and those with a different variant would be better suited to strength and power, but the findings have been inconclusive. So although ACE and ACTN3 are the most recognized genes when it comes to athletics, neither is clearly predictive of performance. The predominant idea 10 or 15 years ago that there might be two, three or four really strong contributing genes to a particular trait like muscular strength "is kind of falling apart," Roth says. "We've been realizing, and it's just been borne out over the past several years, that it's not on the order of 10 or 20 genes but rather hundreds of genes, each with really small variations and huge numbers of possible combinations of those many, many genes that can result in a predisposition for excellence.
"Nothing about the science changed," he adds. "We made a guess early on that turned out not to be right in most instances—that's science."
Gene doping
WADA turned to Friedmann for help after the 2000 Sydney Summer Olympics after rumors started flying that some of the athletes there had been genetically modified. Nothing was found, but the threat seemed real. Officials were well aware of a recent gene therapy trial at the University of Pennsylvania that had resulted in the death of a patient.



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18 Comments
Add CommentHas anyone been able to get past the %#@&$%@ oil company's ad to see the second and third parts of the article?
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I was wondering how that female Chinese swimmer clocked a faster time in her freestyle leg of the IM than the world record holder male swimmer.
Reply | Report Abuse | Link to thisAnd she passed her drug test.
Thanks Larry for telling me how she and the Chinese researchers did it!
I figured it was something, but hadn't thought of gene manipulation.
Появление генетически модифицированных людей это начало новой цивилизации и начало конца нашей цивилизации.Они будут умнее,сильнее,красивее,меньше будут болеть но они утратят человеческие качества присущие нам.В дальнейшем они нас будут использовать как гастайбайтеров и генетический материал,отношение к нам будет соответственное.Генетическое модифицирование приведёт к тому,что на генном уровне генетически модифицированное создание нельзя будет идентифицировать на генном уровне как человека.
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Reply | Report Abuse | Link to thisYou can obviously follow this item in English. Why do you react in a language and a script that is not English?
Если бы я знал английский я бы обязательно писал на этом языке.Меня в твиттере читают серёзные имеющие мировое значение организации и они не не жалуются на проблемы с переводом,также как и я на плохой перевод.
Reply | Report Abuse | Link to thisGene therapy or genetic alterations of athletes may be the next step for top athletes. A most likely gene candidate is the Insulinlike growth factor 1 (IGF-1)- yes- perhaps it could replace injections of anabolic steroids? That is a scary thought? So much for screening urine from a cup!!
Reply | Report Abuse | Link to thisIt would be such a blessing if more research took place to figure out how to alter genes to stop certain diseases from taking control of peoples lives. I wonder how one alteration affects other genes though? Is there any research on how additions to one gene affected all of the other genes?
Reply | Report Abuse | Link to thisГенетические изменения спортсменов это первый шаг,второй шаг будет генетические изменения обычных людей и не допущения рождения младенцев с обычными не модифицированными генами.Благими намерениями устлана дорога в ад.Если ген содержит наследственную информацию(мы её получили от Создателя) то от кого получит такую информацию следующее поколение людей?Будут ли они на генном уровне людьми?
Reply | Report Abuse | Link to thisThe research done on the gene IGF-1 and PPAR-delta is somewhat scary stuff. If they could inject mice with this stuff to give them increased muscle mass and fatigue resistance, what's to stop people from doing the same to children. I can envision parents or just trainers so focused on their child or athlete being a success that they are willing to try untested gene therapy on them. Could this research usher in a group of above-human athletes who perform at extremely high levels? I wonder if in the future we will see cases of genetic manipulation with athletes much more regularly.
Reply | Report Abuse | Link to thisIt's interesting that athletes seem to be genetically predisposed to perform well in certain sports, rather than others (beyond the obvious height, build, and bone structure). Looking at this from a cultural (rather than individual perspective)-- Could that be part of the reason that certain nations perform well at certain sports? For example, Jamaica is known for its sprinters and Ethiopia and Kenya for their long distance runners. Perhaps the runners from these nations carry traits that are widely present in their respective cultures, rather than just their families. If this is so, how did these traits originate? What environmental factors over time caused Jaimaicans to exhibit the speed of fast-twitch fibers rather than the endurance of slow-twitch fibers displayed in Kenyan distance runners?
Reply | Report Abuse | Link to thisWatching the London Olympics and seeing how fast people run, swim, and jump almost seems unreal. When I was watching I started to think about how crazy it is to see records people held from 60's and 70's and how much faster people have gotten. It makes me think is it just the training that allows athletes to get better or are they getting some sort of chemical edge? I hope that the testing techniques develop along with the chemicals being created and used.
Reply | Report Abuse | Link to thisIt doesn't surprise me that athletes would try to gene-dope. I find it fascinating how complex the genes are that contribute to muscle composition and development. From a more philosophical/theological view point, I wonder if people are drawn to certain sports because they have the genetic make up for said sport or if people can obtain athletic greatness based soley on training and not genetical advantage. To add the theological side, does God affect the genes of people in such a way as to make them more suitable for certain sports and then adds the desire for said sport in the hearts as they grow up? It is interesting to think that God might do so in order to use a professional athlete to furthur His kingdom through their sporting career.
Reply | Report Abuse | Link to thisWhat an interesting article. Gene therapy is still so new, no one knows the long-term risks involved. Is it worth winning the gold medal if you end up dying 5 years later?
Reply | Report Abuse | Link to thisScience is progressing at a remarkable pace, and Olympic officials may need to increase testing on athletes (require muscle biopsy before competition). Maybe countries should just race genetically improved mice instead? ;)
Reply | Report Abuse | Link to thisOn the opposite end of the scale, this is exciting stuff. IGF-1 stimulates muscle growth and repair; imagine if this is the key to curing muscular dystrophy and other degenerative diseases! Obviously, gene therapy has no place in the athletic world, but the possibilities in the medical field are endless.
I am constantly amazed by the intricacy of the human body, especially at the molecular level. It is fascinating to think that gene therapy could essentially be a useful method in treating certain diseases. However, I worry about the possible side effects of such therapy. Each gene is linked to a web of pathways, which enable the body to function. The insertion of a particular gene could result in the over-production of a specific protein, which could then have a chain reaction on the pathway of that gene. As stated in the article, there could be hundreds of genes that impact muscle growth/function. It seems as though there is much uncertainty about gene therapy and I feel as though much research is necessary before it is utilized. As for the athletic side of things, I amazed at the lengths people will go to succeed. I feel as though one's God given ability and hard work should be enough and I see no glory in achieving victory in any other way. It is amazing that gene therapy could have such positive results, but it is a sad thought that people will use it as a shortcut to success.
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