May 1, 2013 A research team led by a Howard Hughes Medical Institute investigator at the University of California, San Francisco has identified a genetic mutation that is strongly associated with a typical form of migraine.

In a paper published on May 1 in Science Translational Medicine, the team linked the mutation with evidence of migraine in humans, in a mouse model of migraine and in cell culture in the laboratory.

The mutation is in the gene known as casein kinase I delta (CKIdelta).

This is the first gene in which mutations have been shown to cause a very typical form of migraine, said senior investigator Louis J. Ptek, an investigator at HHMI and a professor of neurology at UCSF. Its our initial glimpse into a black box that we dont yet understand.

Migraine, the causes of which are still unknown, affects 10 to 20 percent of all people, and causes huge losses in productivity, not to mention immense suffering, said Ptek. Typical symptoms include a pounding headache; lowered pain threshold; hypersensitivity to mild stimuli including sound and touch; and aura, which Ptek describes as a visual sensation that presages the headache to come.

The paper presents both clinical and basic scientific evidence that the mutation causes migraine.

In the study, the scientists first analyzed the genetics of two families in which migraine was common, and found that a significant proportion of migraine sufferers in the families either had the mutation or were the offspring of a mutation carrier.

In the laboratory, the team demonstrated that the mutation affects the production of the casein kinase I delta enzyme, which carries out a number of vital functions in the brain and body. This tells us that the mutation has real biochemical consequences, said Ptek.

The scientists then investigated the effects of the mutation in a line of mice that carry it. Obviously, we cant measure headache in a mouse, Ptek noted, but there are other things that go along with migraine that we can measure.

Pain threshold, explained Ptek, can be lowered in mice by the administration of nitroglycerin. The mutant mice had a significantly lower threshold for nitroglycerin-induced peripheral pain than did normal mice.

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Genetic mutation linked with typical form of migraine headache

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