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Letter from the Editor | 244

Athletic mutations

Geneticists have long known that most alterations in genes do neither good nor bad – the effect is simply neutral or non-pathological.  The term “genetic mutation,” however, usually conjures up a more negative connotation with respect to hard-to-treat diseases.  The Olympic Games to be played in August are shedding light on the positive side of the term, reminding us that some mutations can advance the emergence of elite athletes, as reported in this issue’s cover story.

In Brazil, an ongoing project is cross-tabulating the information on polymorphisms found in four genes that can serve as genetic markers of an athlete’s DNA. A team from the Federal University of São Paulo (Unifesp) has created the first Brazilian version of a genetic index that could indicate an athlete’s strong point.  The goal is to find out if one’s greatest physical advantage is stamina – important for long-distance races, muscle strength – essential when great speed is required, or something in between. Using this specific genomic information, it will be possible to set up a database that allows athletes to choose the activity in which they will be most competitive.  It could also help identify athletic talent at an early age, in addition to adjusting the training of those who are already competing.

Experts began to consider the understanding of genetic traits because information about a single gene is sometimes all that is needed to achieve a significant improvement in sports performance.  Researchers also know that the positive side of genetic mutations is only one of the elements that can lead to an athlete’s breaking records and winning medals. Environmental, psychological and cultural factors are just as important.

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The treatment of diabetes may gain new weapons with the proposed regulation of what is conventionally called metabolic surgery.  The guidelines, published in May, were the result of a meeting of experts held in 2015 in London. Strictly speaking, it is bariatric surgery, already used to achieve weight reduction in the morbidly obese.  The proposal to alter the recommendation for patients who have diabetes yet fall short of being considered morbidly obese is based on hundreds of articles about the beneficial metabolic effects of the surgery.  In Brazil, there is some disagreement about the cases for which the procedure is truly warranted.  The discussion is important for public health and is taking place all over the world: according to estimates, nearly 415 million people were affected by the disease in 2015.

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Three technology initiatives from different institutions and companies are starting to develop underwater robots in Brazil.  The autonomous underwater vehicles, as they are called, can be used safely and inexpensively in oceanographic scientific studies, deep-water oil and gas exploration, and in inspections of underwater structures.  Although the equipment is being manufactured and sold commercially by several companies abroad, research studies and developments in the field are recent in Brazil.  The good news is that there are three prototypes already in the testing stage.  The report on Brazil’s aquatic robots begins on page 62.