A gene mutation associated with familial advanced sleep phase syndrome surprisingly also contributes to debilitating migraines, a new study led by University of Utah researchers shows. The discovery can change the treatment of migraines by allowing development of drugs specifically designed to treat the chronic headaches.
Further study is needed to understand how this genetic pathway relates to migraines. But the finding is exciting because it could shed light on all types of migraines, meaning millions of people worldwide could benefit, according to K.C. Brennan, MD, University of Utah assistant professor of neurology and first author of a study published May 1, 2013, in Science Translational Medicine.
“We don’t get the chance very often to isolate one molecule that we’re confident is related to migraines,” Brennan says. “Once we understand which molecules and cells this mutation changes, we can develop drugs specifically targeted to them.”
The mutation occurs when an enzyme, CKI?, becomes impaired. CKI? has many “housekeeping” responsibilities in the body, one of which is to help control the circadian rhythm that determines the sleep cycle.
The story of how the CKI? mutation’s association with migraines was identified is one of cross-country collaboration with a strong University of Utah connection.
In the mid-1990s, a University of Vermont neurologist, Robert E. Shapiro, MD, PhD, was treating a family for migraines. Shapiro recognized that along with migraines his patients showed signs of familial advanced sleep phase syndrome. Shapiro contacted Louis J. Ptá?ek, MD, a University of California, San Francisco, neurogeneticist and former University of Utah faculty member, a top expert in the field of sleep-related genes. Ptá?ek, who was collaborating with University of Utah sleep expert and professor of neurology Christopher R. Jones, MD, PhD, began searching for a gene related to the sleep disorder. Jones then started identifying the characteristics of familial advanced phase sleep disorder in the Vermont family members.
“The sleep disorder was the clue that allowed us to identify the needle in the haystack—the mutated gene,” Jones says. “Migraine is so common that we could not have identified the gene based on migraine features alone.”