- TOP PLAYERSOffensePABLO S. TORRE | August 20, 2012
- TAMPA BAY buccaneersENEMY lines WHAT A RIVAL COACH SAYSJune 28, 2012
- Faces in the CrowdJune 11, 2001
What Pitsiladis is trying to do, in his words, is understand what makes the perfect athlete. He and colleagues have begun to sift through the genomes of some of his world beaters in hopes of finding one who, based on the performance genes identified thus far, is genetically perfect. He started with Jamaican sprinters and was startled by his preliminary findings. But before considering the genes that athletes want to have, let's consider one that they don't.
KNOWLEDGE EQUALS POWER?
ON A NOVEMBER afternoon in Manhattan, Ron Duguay, who played 12 seasons in the NHL, mostly as a center for the New York Rangers, was bracing for bad news. Duguay fiddled with his mammoth Rangers pinkie ring as he sat in a doctor's office overlooking Park Avenue South. Duguay was famous in the 1980s for playing without a helmet, and even at 52 the long brown tresses that made him a sex symbol have barely thinned.
He was in town to talk with Dr. Eric Braverman, hoping to get some help with his deteriorating memory. "I've had people tell me I should write a book about my career," Duguay said, "but I'd have to call up my teammates. There's a lot I can't remember." He guesses that he had between one and three serious concussions during a career that spanned from 1977 to '89, and he frequently took sticks or pucks to his unprotected head. After a battery of exams Braverman informed Duguay that he had flunked three tests of his memory and of the processing speed of his brain. "He's a mess compared to his old self," Braverman said. Braverman also ordered a test to see what versions Duguay has of the ApoE gene.
Duguay's grandmother died from Alzheimer's disease. Studies of Alzheimer's patients have found that a particular variant of the ApoE gene is associated with increased risk of the disease. Each person has two copies of the ApoE gene. (Each one is either ApoE2, ApoE3 or ApoE4.) People with one copy of ApoE4 have a three- to fourfold increased risk of Alzheimer's, while people with two ApoE4 copies have eight times the risk. Alzheimer's patients with ApoE4 variants also tend to show signs of dementia at an earlier age than Alzheimer's patients who do not have the variant.
The more ApoE has been studied, though, the more it has been associated not only with Alzheimer's but also with the ability of the brain to heal from all manner of trauma. People with ApoE4 variants who hit their heads in car accidents, for example, are more likely to have permanent damage or to die than those who have other variants. And a series of small studies suggests that athletes with ApoE4 variants who get hit in the head are more likely to recover slowly and to suffer greater dementia later in life. It is not entirely clear how ApoE affects brain recovery, but the gene is involved in the inflammatory response of the brain after injury, and people with the ApoE4 variant appear to take longer to clear their brains of a particular protein called amyloid, which floods in following head trauma.
A 1997 study of 30 boxers found that those who had taken a lot of blows to the head and had an ApoE4 copy scored significantly worse on tests of brain impairment than similar fighters who did not have an ApoE4 copy. The ApoE4 variant is present in less than 25% of the general population, but it was present in all three of the boxers in the study who were severely impaired. A 2000 study of 53 active pro football players concluded that three factors caused some players to score lower than others on tests of brain function: 1) age, 2) having been hit in the head a lot and 3) possessing an ApoE4 variant.
Last year, during the NFL's concussion controversy, doctors from Boston University made news with research on dozens of cases of brain damage in deceased football players and boxers. What escaped the news was the genetic data the researchers had for nine of the athletes. Five of them, or 56%, had at least one ApoE4 variant, more than twice the proportion found in the general population.
Two years after the study of the 53 football players, Barry Jordan, one of its authors and until a year ago the chief medical officer of the New York State Athletic Commission, considered requiring ApoE screening for all boxers in the state but then backed off. Doctors agree that more work is needed to understand how ApoE4 affects brain recovery before a genetic test should become common practice. Jordan and James P. Kelly, a neurologist on the Colorado State Boxing Commission, cited two other arguments against offering an ApoE test to athletes: first, teams and insurance companies might unfairly discriminate against an athlete with a certain gene; second, to tell someone he has an ApoE4 variant is to tell him about his risk of developing Alzheimer's later in life, information he might not want to know. "With ApoE4, some would argue that knowledge is not power," Kelly says.
Part of the concern over the insurance issue was allayed last year when the federal Genetic Information Nondiscrimination Act took effect, barring employers and insurance companies from discriminating on the basis of genetic information. And research at Boston University has found that people who volunteer for an ApoE screen do not feel undue dread if they find out they have the deleterious variant. In fact, they usually embrace lifestyle habits, such as exercise, that doctors tell them might decrease their Alzheimer's risk. "This is a very controversial area," says Robert C. Green, a BU neurologist who helped conduct the work. "The world of genetics for decades has suggested that there's no reason to give people genetic-risk information unless there's something proven you can do about it."