New research from the University of California, San Francisco has identified a genetic mutation that is linked to migraines.
The mutation occurs in a gene called casein kinase I delta (CKIdelta), and the studys senior investigator, Louis J. Ptacek, said this is the first time researchers have linked a genetic mutation to common migraines.
Its our initial glimpse into a black box that we dont yet understand, Ptacek, an investigator at the Howard Hughes Medical Institute at the University of California, San Francisco, said in a news release.
More than 30 million Americans suffer from migraines, and scientists dont know what exactly causes them. Migraines are often characterized by intense, throbbing head pain, and are often accompanied by an aura, sensitivity to light and/or nausea.
The researchers discovered the gene by looking at the genetics of two families with a history of migraines. They noticed that a large portion of the migraine sufferers either had the mutated gene or had a parent who carried the mutated gene. In the lab, the researchers were able to show how the mutation affects production of the gene, which has many important functions throughout the brain and body.
This tells us that the mutation has real biochemical consequences, Ptacek added.
Scientists then looked at the effects of the mutated gene in a line of mice.
The mice who had the mutation had a significantly lower pain threshold for nitroglycerin-induced pain versus the mice who did not have the mutation.
Scientists also mimicked the sensation of a migraine aura in the mice using a technique called cortical spreading depression (CSD) a wave of electrical silence that follows electrical stimulation. Mice with the genetic mutation had less tolerance for this as well, which Ptacek said was especially intriguing.
Lastly, Ptaceks team found that astrocytes, cells that are essential for neuronal functioning and health, in the brains of the genetically-mutated mice showed an increase in calcium-signaling, compared to the astrocytes in the brains of normal mice.
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Genetic mutation associated with migraines