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Inspired By Her Own Migraines, Researcher Discovers Migraine Gene

Update Date: May 02, 2013 10:35 AM EDT

Although the severity of headaches and migraines vary between people, in most of the cases, the experience of throbbing and concentrated pain can be excruciating. For Emily Bates, migraines were an unexpected condition that interfered with her academic, athletic and social lives, and unlike most people who turn to treatment only, Bates decided to study the chronic illness as well, determined to find more clarity on this condition. Bates, who is now a chemistry professor at Brigham Young University in the United States, got her Ph.D. in genetics from Harvard and proceeded to join a genetics team headed by Louis Ptáček from the University of California San Francisco medical school. Together, they published their findings about a single genetic mutation that could be directly linked to migraines.

"I had migraines really frequently and severely," Bates stated. "I would lose my vision, vomit uncontrollably - it would wipe out an entire day. I decided then as a high school student that I was going to work on migraines, that I was going to figure them out and help find a cure."

Previous researchers have found genetic links to migraines. A study in 2011 concluded that there were three genes that increased a person's risk for migraines and in 2012, another study found four new genes that could identify a person's predisposition to the condition without aura. In this study, Bates and her colleagues observed two families that had a dominantly inherited type of migraines. These two families also appeared to be suffering from familial advanced sleep phase syndrome (FASPS), which is a rare sleeping disorder that leads to sleeping early in the evening and waking up early in the morning. Based from these two samples, the researchers discovered one particular gene that was responsible for the production of protein, casein kinase delta. In order to test whether or not this gene and protein were indeed related to causing migraines, the research team experiment on mouse models.

They observed two sets of mice and their sensitivity toward light and pressure. Since migraines cannot really be tested, the researchers based their experiment on the fact that headaches often increase sensitivity to different stimuli. After genetically modifying one group of mice with the mutation and keeping the other group normal, the researchers discovered that the modified mice were significantly more sensitive to surrounding stimuli. The mutated mice also develop astrocytes, which are star-like cells that support brain cells, with extra levels of calcium signaling. Astrocytes are believed to be linked to migraines as well.

"As we come to a clearer understanding, we can start thinking about better therapies. Certain molecules might be targets for new drugs," senior author Ptáček said. "The need for better treatment is huge."

The research team hopes that more research can be done to find better treatment options for people who suffer from migraines.

The study was published in Science Translational Medicine

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