The Sports Gene: Inside the Science of Extraordinary Athletic Performance (30 page)

By twenty-two years old, he was clearly good enough to ski for Finland at the 1960 Olympics, but most of the best skiers were older, and team officials weren’t eager to allow an inexperienced skier to test his mettle on the biggest stage. Mäntyranta persuaded the team managers to allow an intramural time trial. He placed second, behind thirty-five-year-old skiing legend Veikko Hakulinen, who already had two Olympic golds. The performance earned Mäntyranta a spot on the 4×10K relay team at the Games, where they took home the gold.

That Olympic title was just the preamble. Two golds and a silver followed in Innsbruck in 1964. Then a silver and two bronzes in Grenoble, France, in ’68, and a bevy of world championship medals along the way. In all, he placed in five hundred races, amassing enough crystal glasses and silver bowls and dishes to fill a china shop. Even now, he will awake some days and tell Rakel that his legs are tired because he was again ski racing in his dreams.

But Mäntyranta’s trail to the skiing pantheon started long before the 1960 Games. It started before the work in the forest prodded him to seek a better life. Before he began skiing across the lake to school on warped planks. Even before he first stood on skis when he was three years old. It began when his great-grandfather made the trip to Finland.

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The details of the Mäntyranta family’s beginnings in Finland are murky, but relatives were certainly in Lapland by the 1850s. It was probably Eero’s great-grandfather who came from Belgium to work as a blacksmith, forging coins. His son, Isak, married a woman named Johanna, whose father was just wealthy enough to own a swath of land north of Lankojärvi. Isak and Johanna lived in a cottage on the land on the condition that Isak help the resident farmers there with their work. But Isak was not one for manual labor and he soon wore out his welcome.

Eero would not inherit Isak’s lax work ethic, but—via his father,
Juho—he would inherit a rare version of a gene that altered his body’s blood supply.

The first sign in Eero was during a routine medical exam when he was a teenager. A blood test showed that he had extraordinarily high levels of hemoglobin, the oxygen-carrying protein in red blood cells. It is the iron in hemoglobin that gives blood its red color. Because Eero was perfectly healthy, there was little concern about his high hemoglobin levels.

But that began to change during his competitive career. Every time he was examined, Eero was found to have high hemoglobin and far more than the usual amount of red blood cells. Normally, those are signs that an endurance athlete is blood doping, often with a synthetic version of the hormone erythropoietin, or EPO. EPO signals the body to produce red blood cells, so injecting it spurs an athlete’s own body to bolster its blood supply.

At times, Eero’s extraordinary red blood cell count—measured at up to 65 percent higher than that of an average man—sullied his sterling career. Despite the fact that his blood levels had been documented since he was a kid, speculation was rife that his unusual blood profile was the result of doping. It was not until twenty years after his retirement from skiing that scientists pinpointed the truth.

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From time to time, other members of the Mäntyranta family would discover through a routine medical test that they had elevated hemoglobin levels. Because there were no apparent ill health effects, doctors did nothing about it.

It was enough, however, to ignite the curiosity of Pekka Vuopio, the head of hematology at the University of Helsinki and a native Laplander who knew well the athletic exploits of Eero Mäntyranta. In 1990, Vuopio and his colleagues invited Eero to Helsinki for a series of tests in the hope that examining him might shed light on a condition called polycythemia, an elevation in red cells that can cause a
dangerous thickening of the blood and that sometimes runs in families.

One of the doctors’ first theories was that Eero’s red blood cells might have a longer life span than normal, so that new blood cells were produced before old ones had been cleared away. But that turned out not to be the answer. Another possibility was that Eero naturally secreted high levels of EPO, thus instructing his body to overproduce red blood cells. But that wasn’t it either. The level of EPO in Eero’s blood was so low that it was nearly below the lower limit for healthy adult men.

But when hematologist Eeva Juvonen examined Eero’s bone marrow cells in the lab, she saw something astonishing. In order to test whether his bone marrow cells—which produce red blood cells—were particularly sensitive to EPO, the research protocol was to add EPO to a cell sample and track red blood cell production. Eero’s bone marrow cells began the process of creating red blood cells before Juvonen could even stimulate them with EPO. Whatever tiny speck of EPO that was already in the sample was enough to keep the red cell factories humming. So it was clear that Eero’s body heeded the call of even trace quantities of EPO with extraordinary vigor. Illuminating the reason why would require more members of the Mäntyranta clan.

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Albert de la Chapelle identifies himself as a gene hunter. He is exceedingly good at tracking his prey. He is the geneticist who argued on behalf of María José Martínez-Patiño when she was barred from competing as a woman. These days he spends his time at Ohio State University training his sights on the genes that predispose people to the most deadly cancers ever known, like acute myeloid leukemia, which interferes with blood cell production and can put a previously healthy patient in the ground in a matter of weeks.

De la Chapelle spent most of his career at the University of Helsinki, hunting gene mutations that cause diseases that show up in Finland far more often than in the rest of the world. These diseases come from
so-called founder mutations, meaning that a mutation arose in a member of a small group and spread through that population as it grew. De la Chapelle was part of a team that clarified the genetic basis of more than twenty diseases—multiple forms of epilepsies and dwarfisms among them—that are endemic to Finland. (And sometimes to Minnesota, a state heavy with residents of Finnish ancestry.)

Not long after Eero Mäntyranta’s blood was examined in the lab, de la Chapelle made a trip to Lankojärvi to meet a group of forty Mäntyrantas who had assembled at Eero’s house to talk with the researchers who were now studying their blood. It was winter, and de la Chapelle remembers marveling at the noontime sun as it kissed the surface of the lake.

After a lunch of fresh reindeer prepared by Rakel, de la Chapelle set to mingling in the living room. “I was sitting there on the couch with these three elderly ladies,” de la Chapelle recalls, “and I already knew two had the condition and one did not. And they went over their health with me and it was the one without the condition that had all the health problems and the two with it were quite healthy and were unaware of anything at all being different with them.”

Even if not for their slightly darker complexions, de la Chapelle would have known that the two healthy women had the blood condition. He had already been through their genomes.

In all, ninety-seven Mäntyrantas were examined, twenty-nine of whom had remarkably high hemoglobin, along with slightly ruddier complexions than the average Finn. Unlike the initial study of Eero, this examination went more than blood deep. De la Chapelle probed all the way down to a particular gene on the nineteenth chromosome, the EPOR, or erythropoietin receptor gene.

This particular gene tells the body how to build the EPO receptor, a molecule that sits atop bone marrow cells awaiting the EPO hormone. If the EPO receptor is a keyhole, it is one made specifically to accept only the key that is the EPO hormone. Once the key is in the lock, the production of red blood cells proceeds. The receptor signals
a bone marrow cell to start the process of creating a red blood cell that contains hemoglobin.

Of the 7,138 pairs of bases that make up the EPO receptor gene, there was a single base that was different in the twenty-nine family members who had unusually elevated hemoglobin levels. Each family member, like every human being, had two copies of the EPOR gene. But at position 6,002 in only one copy of each affected family member’s two EPOR genes, there was an adenine molecule instead of a guanine molecule. A minuscule alteration, but the impact was immense.

Instead of adding information for the cellular machinery to continue to build the EPO receptor, the spelling change constituted a “stop codon,” the genetic equivalent of a period at the end of the last sentence of a chapter. A stop codon essentially tells RNA—ribonucleic acid, the molecule that reads DNA code so that it can be translated into action—that the instructions are finished.
Move along, nothing more to read here
, it says. So instead of coding for the amino acid tryptophan, as that section of the EPOR gene normally would have, the Mäntyranta family mutation caused the receptor simply to stop being built with over 15 percent of its construction unfinished. The unfinished portion in the affected Mäntyranta family members happens to be a segment of the receptor in the interior of the bone marrow cell. The piece of the receptor on the exterior of the cell awaits the EPO key, while the interior portion modulates the subsequent response, acting like a brake to halt hemoglobin production. In the affected Mäntyrantas, who are missing the brake, the production of red blood cells runs amok.

Fortunately for the family, the overproduction of red blood cells did not lead to ill health. Save for the slightly dark complexion, family members had no outward signs of abnormality and generally discovered their condition by accident during routine checkups.

The Mäntyranta EPOR gene finding was a major discovery in the early 1990s. The high hemoglobin condition in the Mäntyrantas was passed down through the family in an autosomal dominant fashion, meaning that only a single copy of the mutant gene was required for
a family member to have the condition. Other dominantly inherited gene mutations had been discovered before that study, but they were generally tied to serious illnesses.

In the papers they published in 1991 and 1993, the researchers noted that Mäntyrantas who carried the family EPOR mutation had long lives. They had found, it seemed, a mutation beneficial for an athlete and otherwise of little consequence. De la Chapelle says, though, that he could never convince Eero himself that the EPOR mutation aided him in his Olympic quest. “He kept saying that it was not his bodily strength,” de la Chapelle says, “but his determination and psyche.”

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Since I came all the way from Brooklyn to meet him, Eero is eager to tell me about his visit to New York City after the 1960 Winter Games. “Scary” is how he describes his first impression of the morass of Cadillacs, streetlights, and asphalt.

He has also laid out for me some of his most prized medals, the seven from the Olympics, and a medal of honor that the government normally reserves for military heroes. As they have for polar night, the Finns have an untranslatable word,
sisu
, that roughly means strength of passion, or calm determination in the face of obstacles. The Finnish government determined that Eero was the embodiment of
sisu
.

Iiris, wearing shoulder-length blond hair and black-rimmed glasses, translates a story from her childhood about the aftermath of the 1964 Olympics, when the local electric company paid for Eero to return home in a helicopter. It landed atop the ice covering the lake amid hundreds of revelers who had gathered to celebrate. Iiris was a little girl, and remembers running excitedly toward the helicopter. At first, Eero enjoyed the attention, and it afforded him a job working for the local government teaching physical education to children. But it quickly became a burden.

Through the mid-1960s, reporters would show up unannounced at
Eero’s door asking him to “tell me a story, but not what you tell others,” Eero says through Iiris’s translation. Before competitions, tourists from southern Finland would drop by asking to see medals and to take pictures, requests that Eero and Rakel felt obliged to honor. For Eero, skiing had always been more about winning and getting a better job than an intrinsic love of the activity, so the unwanted attention was enough to push him to retire from ski racing following the 1968 Olympics, at the age of thirty.

At the behest of a Finnish celebrity magazine, he made a brief comeback before the 1972 Winter Olympics in Sapporo, Japan. He had not skied a stride, or exercised at all, for three years, and he was well above his racing weight. The magazine promised to pay Eero’s training expenses so that he could take a break from work so long as he gave the publication access to document his comeback. Eero returned to the trails just six months prior to the Olympics but made the team and finished nineteenth in the 30K race in Japan before going back into retirement, this time for good.

Toward the end of my visit, we all take spots on couches and chairs in the living room, flanked by paintings of winter landscapes. Eero points out a series of sepia photographs hanging on the wall. They are of his ancestors. There is swarthy-skinned Isak, in a vest and newsboy cap, reclining on the ground of a forest clearing and enjoying a meal with Johanna, her head wrapped in a light-colored scarf. And above that is a picture of Eero’s parents, Juho and Tynne, sitting on wooden chairs in a patch of cleared land with several of their children.

Isak and Juho died before de la Chapelle ever started probing the family genome, but enough Mäntyrantas were tested that he was able to create a genetic family tree and deduce that they had the EPOR mutation. Juho’s two brothers, Leevi and Eemil, also carried the mutation.

But it will soon come to an end down Eero’s line. His son Harri had it and showed promise as a youth cross-country skier, but Harri died as a young man of an illness that had no relation to the EPOR
mutation. Iiris does not have it, and of Eero’s remaining two children, fraternal twins Minna and Vesa, only Minna has it, but her only son does not.

When I ask Eero whether he was relieved that the University of Helsinki doctors lifted the suspicion of blood doping from his victories, he says yes, but that he disagrees with the suggestion that the mutation gave him an advantage. Eero’s feeling is that the increased viscosity of his red-cell-loaded blood would have hampered his blood circulation, thus balancing any performance benefits. De la Chapelle disagrees staunchly. “It’s an advantage, there’s no question,” he told me, noting that Eero’s hemoglobin levels were the highest he has ever seen. “If the blood didn’t circulate well, that would be a pretty serious situation and you would know.”