Gene Mutation Linked to Migraines, Researchers Say
Link observed in laboratory cells, mice and humans
Wednesday, May 1, 2013
The causes of migraine headaches are unknown. Between 10 percent and 20 percent of people suffer from the debilitating, recurrent headaches.
For the new study, published May 1 in the journal Science Translational Medicine, researchers analyzed the genetics of two families in which migraines were common. They found that many of the migraine sufferers had either a mutation in the casein kinase I delta (CKIdelta) gene or were the children of a parent with the mutation.
In laboratory cells, the researchers found that the mutation affects production of the CKIdelta enzyme, which performs vital functions in the brain and body.
Further experiments in mice suggested more evidence of a connection between this gene mutation and migraines.
"This is the first gene in which mutations have been shown to cause a very typical form of migraine," senior investigator Louis Ptacek, a professor of neurology at the University of California, San Francisco, said in a university news release.
"It's our initial glimpse into a black box that we don't yet understand," added Ptacek, who also is an investigator at UCSF's Howard Hughes Medical Institute.
Migraines cause "huge losses in productivity, not to mention immense suffering," Ptacek said. Symptoms include a throbbing headache, hypersensitivity to sound and touch, and aura, which Ptacek described as "a visual sensation that presages the headache to come."
There are good migraine drugs available now, "but they only help some patients, some of the time," he said. "The need for better treatments is huge."
"[This research] puts us one step closer to understanding the molecular pathway to pain in migraine," he said. With a better understanding of the condition, "we can start thinking about better therapies. Certain molecules might be targets for new drugs."
Ptacek said the CKIdelta gene is not the only mutation likely to be associated with migraines. "There are likely several, in different combinations in different people," he said. "This is simply the first one we've found."