Scientists have recently discovered a gene mutation that contributes to both migraine and a rare sleep disorder. It is an achievement they hope will help will lead to relief for millions of migraineurs.
“We don’t get the chance very often to isolate one molecule that we’re confident is related to migraines,” said K.C. Brennan, MD, the lead author of the study and an assistant professor of neurology at the University of Utah. “Once we understand which molecules and cells this mutation changes, we can develop drugs specifically targeted to them.”
This latest research involved a team of researchers across the country and began in Vermont in the mid-1990s, when neurologist Robert Shapiro, MD, PhD, was treating a family for migraine. He also determined that family members had a rare sleep disorder, called familial advanced sleep phase syndrome, which affects the body’s circadian rhythms—biological changes that follow a daily cycle, allowing people to sleep and be active at appropriate times.
Shapiro reached out to Louis Ptacek, a neurogeneticist at the University of California, San Francisco, for assistance on researching the gene responsible for the sleep disorder. Dr. Ptacek and his colleagues found that a mutation occurs when an enzyme called CK1delta is impaired. This enzyme has many functions in the body, including the circadian rhythms involved in the sleep cycle.
Dr. Brennan then began investigating the mutation and found strong evidence of its link with migraine.
“Nobody would have predicted that this gene would be relevant to migraine,” he said.
Further research indicated an additional mutation on the CK1delta gene that also seems to cause migraine. In all, the researchers said, six genes are now known to cause migraine, and this is the first gene implicated in a typical form of migraine.
Brennan and his colleagues note that therapies based on this research are a long way off, but it is an important beginning to what may be a new type of migraine therapy.
“We’ll have to look in much finer detail at this genetic pathway before we get to new treatments,” Dr. Brennan said. “But you can’t get to that point without this first step.”
The research appeared May 1 in Science Translational Medicine.