A new study from the University of California in San Francisco reveals a genetic mutation that is associated with migraines.
This discovery marks the first that researchers have been able to link a genetic mutation to common types of migraines, said Louis J. Ptacek, the study's senior investigator.
"It's our initial glimpse into a black box that we don't yet understand," said Ptacek from Howard Hughes Medical Institute at the University of California in San Francisco.
The mutation was found in a gene known as casein kinase I delta, or CKIdelta, and was discovered after researchers analyzed the genetics of two separate families who have a medical history of migraines.
After analysis, researchers noticed that those who suffered from migraines either had the mutated gene or had a parent with the mutated gene.
"This tells us that the mutation has real biochemical consequences," Ptacek said.
In laboratory testing, researchers were also able to display how the mutation negatively impacts gene production, an important role in functionality throughout the brain and body.
The next step in research was to analyze the gene mutation and its possible implications on mice.
Researchers found that the mice with the mutated gene had a much lower pain threshold for nitroglycerin-induced pain as compared to the mice who did not have the mutation.
The mice with the genetic mutation also had a lower threshold for pain associated with a technique that emulates the sensation of a migraine, called cortical spreading depression, or CSD.
And to add even more depth to the findings, researchers also detected astrocytes — cells that play a key role in neuronal functioning — in the brains of the mice with the mutation displayed more calcium-signaling, in contrast to the mice without the mutation.
"This is significant because we think astrocyte function is very, very relevant to migraine," Ptacek said.
"This is an enzyme, and so it modifies proteins. The question is, which protein or proteins does it modify that is relevant to migraine? How does it change astrocyte activity?"
Ptacek believes there are more mutations related to migraines and that this discovery is only the first of many.
The study was published in the journal Science Translational Medicine.