Migraine by ~Dana-W
Genetic Mutation Linked with 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. Ptácek, a Howard Hughes Medical Institute investigator and a professor of neurology at UCSF. “It’s our initial glimpse into a black box that we don’t 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 Ptácek. Typical symptoms include a pounding headache; lowered pain threshold; hypersensitivity to mild stimuli including sound and touch; and aura, which Ptácek 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 Ptácek….
The research “puts us one step closer to understanding the molecular pathway to pain in migraine,” he said. “And, as we come to a clearer understanding, we can start thinking about better therapies. Certain molecules might be targets for new drugs.” There are good drugs now, said Ptácek, “but they only help some patients, some of the time. The need for better treatments is huge.”
The CKIdelta mutation is “far from the only mutation likely to be associated with migraine,” Ptácek cautioned. “There are likely several, in different combinations in different people. This is simply the first one we’ve found.”