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Commentary: Double Muscled

It was reported in USA Today, June 30 2004, and in other publications, that a boy in Germany was born with a rare genetic mutation causing extreme muscling. The boy's syndrome is similar to the bovine condition known by ranchers as "double muscling.

USA Today reports that the mutation causes double the typical amount of muscle fibers to be present in the muscles. As a result, the boy, now four years old, is much stronger than other boys his age.

The mutation results from the activation of two particular genes that are present, but dormant, in the general population. Occasionally one gene is activated, as has been hypothesized in the cases of several Olympic strength champions of the past century. Only now, however, has a human case been uncovered in which both genes are activated.

We believe such genetic "disorders" will pose tricky problems, for example for future Olympic committees. Twelve years from now, a sixteen year old German may decide to compete in weightlifting, and the committee will have to decide whether to allow him. Three tough questions follow. First, if the boy with double muscling is allowed to compete, will athletes who achieve the same genetic result through medical means (doping) also be allowed to compete? If not (presumably because of a distinction between natural and medical genetic alterations), where is the line drawn between a natural mutation, and doping - where does breeding fit in, and will eugenics once again rear its head? Finally, if the boy is disallowed from competing, what will be the grounds? All athletes are genetically predisposed toward athleticism, not just those with gene characteristics classified as mutations. Soon a genetic influencer of speed will be found, and what then? (In fact, the double muscling mutation, when induced in mice, caused a major increase in the muscles of the hind legs, in one study, which results have not been explained or repeated).

For now, the double muscling mutation is the latest best hope for treatment of disorders of the muscles, the so-called wasting diseases such as muscular dystrophy. Study of the double muscling phenomenon may lead to gene-based medicines or procedures that can help increase the musculature of MD sufferers and prolong their lives.

Unfortunately, it is not well known the fate of the German boy. Far from Olympic athleticism, he may face a life burdened with an awkward body mass, or the mutation may cause harmful long term effects. As for the Olympic committee, gene doping, which is undetectable through blood or urine tests, poses a dilemma. If doping is outlawed, detection and enforcement methods are not as yet envisioned. If doping is allowed, some individuals will undoubtedly abuse the system, and others' bodies.

But most importantly for now is the focus on the quality of life of disease sufferers. Science can and must push forward for the betterment of the less fortunate among us. If the side effect of helping those in need is a philosophical predicament and a handful difficult decisions, small price that.

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