We’re Taking the First Steps Toward a Cure for Narcolepsy
Mitler is now a forensic examiner based in Washington, DC, specializing in litigation arising from fatigue-related accidents. I ask him if the story of the discovery of narcolepsy is really as good as it appears. “In a word, yes,” he says. “In the Seventies, we didn’t know what we didn’t know about narcolepsy.” There is simply no way anyone could have anticipated how profitable the research into Monique and other dogs would turn out to be. The plan at that stage, he admits, was simply to use the animals to test new drugs that might improve treatment of the symptoms and to carry out autopsies in case there were some obvious physical changes to the brain.
Word began to spread, and soon Dement and Mitler were looking after Monique alongside several other narcoleptic dogs, including a Chihuahua—terrier cross, a wire-haired griffon, a Malamute, Labrador retrievers and Doberman pinschers. The fact that narcolepsy appeared to be more common in some breeds than others suggested there could be some kind of genetic basis to the disorder. Then came the breakthrough: a litter of around seven Doberman puppies, all of them with narcolepsy and cataplexy. “Within 24 hours or less we saw the first of the litter and then the last of the litter all collapse,” says Mitler. “There was a large group of us at Stanford and we collectively had our chins on the floor.”
It turned out that in Labradors and Dobermans, the disorder was inherited. Dement made the decision to focus on Dobermans and, by the end of the 1970s, he was the proud custodian of a large colony and had established that narcolepsy in this breed was caused by the transmission of a single recessive gene. By the 1980s, methods of genetic analysis had advanced just enough to contemplate an effort to hunt down the defective Doberman gene.
I can never reconstruct the combination of factors that led to the onset of my own narcolepsy, but the stage was set at the moment of my conception in 1972, at around the time of Monique’s birth in Saskatchewan. My one-cell self inherited a particular version of a gene (known as HLA-DQB1*0602) that forms part of a set that helps the immune system distinguish friend from foe. HLA-DQB1*0602 is pretty common–around one in four people in Europe boasts a copy–but it plays a key role in many cases of narcolepsy, and is present in 98 percent of those with narcolepsy and cataplexy.
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