Adam’s Journal
When I watch the winter — or any — Olympics, I can’t help but wonder how many of the athletes I’m seeing are using performance-enhancing drugs. But maybe I’m being too cynical. Are there genetic mutations that fuel performances that might otherwise seem superhuman?
Dr. Scofield Prescribes
There’s a lot to unpack there, especially in a short column. So, let’s limit the answer to one Olympic sector: endurance sports.
Red blood cells carry oxygen to the muscles. The more oxygen carried, the better the endurance athlete. If an athlete can raise their population of red blood cells by a few percentage points, that represents a huge competitive advantage.
A person can increase red blood cell count by training. A way to further boost red blood cell production is by training at altitude. This causes the kidneys to make an increased amount of a hormone called erythropoietin (or EPO), which instructs the bone marrow to produce more red blood cells.
This is all kosher in the sporting world, and it’s done all the time. Indeed, it’s not coincidental that the United States’ main Olympic training center is located in Colorado Springs, which sits more than a mile above sea level.
There are also other ways to raise red blood cell levels that are considered cheating. These include blood doping, which involves drawing your own blood and then transfusing it back into you right before competition, and taking injections of EPO. The most notorious example of an athlete using these techniques was seven-time Tour de France winner Lance Armstrong, who was eventually stripped of his titles.
Before Armstrong confessed, his team often attributed his dominance to genetics. And in addition to the advantages he gained from cheating, I have little doubt genetics played a role in his exceptional performances. But in the annals of the Winter Olympics, I found an interesting case where genetic testing answered a question quite like the one you’re asking.
Eero Mäntyranta was a Finnish cross-country skier who won seven Olympic medals in the 1960s, including three golds. Throughout his career, though, he was dogged by rumors of blood doping. (EPO was not yet available.)
Normally, 35-45% of blood volume is attributable to red blood cells. Altitude training can push those figures up a few percentage points, but any number above 50% invites suspicions of blood doping.
Mäntyranta routinely tested at levels of 60-70%.
It wasn’t until decades after his retirement, though, that scientists got to the bottom of the story – and cleared his name. In a study published in the Proceedings of the National Academy of Sciences, researchers found that he and many members of his family had a genetic mutation that caused an abnormally high red blood cell count.
Two other members of Mäntyranta’s extended family were also champion cross-country skiers, but many more weren’t. So, even in this remarkable clan, world-class athletic performance required more than genes.
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Dr. Hal Scofield is a physician-scientist at the Oklahoma Medical Research Foundation, and he also serves as Associate Chief of Staff for Research at the Oklahoma City VA Medical Center. Adam Cohen is OMRF’s senior vice president and general counsel. Send your health questions to contact@omrf.org.
