Stanford University scientist Euan Ashley and his team are looking for the superhero genes that give elite athletes their superhuman abilities — and which may yield medical insights, too:
The data analysis will take many years?—?there are too many possibilities to sift through them all?—?but the ELITE team has already isolated some 9,200 genetic variants that may explain preternatural athletic ability. “Our first focus is on the heart,” Ashley said, “but then we’re searching for variants across the whole genome.” One early contender, flagged just before my visit, is a gene known as DUOX. A mutation in the gene essentially confers what many nutrition gurus tout as the health benefits of antioxidants, mitigating the damaging effects of our usual cellular metabolism. In the past, DUOX mutations have been identified in a very specific population: People who’ve managed to adapt to living at extremely high altitudes?—?in the Andes, in particular?—?show the mutation, suggesting a possible link to increased pulmonary function. Could DUOX-targeting therapies help in hypoxia? Could they help with tissue repair, since the amount of oxygen in wounds is a crucial factor for speed of recovery?
Then there’s NADK, a gene involved in fatty acid synthesis. If you have lowered NADK, your body could be better at using fat as fuel, making you more powerful over time. So far, two athletes in the sample have the mutation, a high hit rate given its rarity. Could this be a weight-regulating therapy in the making?
Another intriguing variant found in several athletes is RUNX3?—?though, as with all of these mutations, the data are quite preliminary and any conclusions likewise so. Originally, the gene came to light in cancer research. Normally, it suppresses tumors, but in mutated form the suppression function is lost and increased cellular growth ensues. If you’re an athlete, cellular growth can be good: The better your muscles and heart grow, the more quickly you respond to training. The mutation, however, can also lead to tumors. There’s a finely calibrated and fungible line between overperforming and underperforming, between what makes us healthier and what puts us at risk.