研究人员将一个异常基因与普通类型的偏头痛和罕见的睡眠障碍联系起来。 这一发现提供了对偏头痛机制的深入了解，为探索治疗方案提供了新的途径。

据估计，超过1 10中人们经历剧烈头痛，常伴有脉冲或抽痛，称为偏头痛。 关于偏头痛患者的三分之一还出现一种被称作先兆偏头痛头痛开始前不久视觉或感觉障碍。 虽然偏头痛的原因是了解甚少，条件是已知的在家庭等的基因可能发挥作用。

In earlier NIH-funded research, Dr. Louis J. Ptácek and his colleagues identified the gene responsible for a rare sleep disorder in a Vermont family. This family also tended to suffer from migraine with aura, which is how they originally came to medical attention. The sleep disorder, called familial advanced sleep phase syndrome, drives people to be “early birds”—going to sleep and waking up unusually early each day. A decade ago, Ptácek’s team showed that affected family members had mutations in an enzyme called casein kinase I? (CKI?). enzyme plays a key role in sleep-wake cycles, or circadian rhythms, of species ranging from fruit flies to mice to people.

In the new study, a multicenter research team headed by Ptácek, who is at the University of California, San Francisco, took a closer look at the potential role of CKI? in migraine. Their research was funded in part by NIH’s National Heart, Lung and Blood Institute (NHLBI), National Institute of Neurological Disorders and Stroke (NINDS) and National Institute of General Medical Sciences (NIGMS). on May 1, 2013.

The researchers first analyzed the CKI? gene in 14 members of the original family. Five who had identical mutations in the CKI? gene also met the diagnostic criteria for migraine. The scientists then sequenced the gene in blood samples from 70 additional families with the rare sleep disorder. One family had a slightly different mutation in the CKI? gene. In this family, too, all 5 members with CKI? mutations had migraine, aura without migraine or probable migraine. In further analysis, the researchers showed that the CKI? mutations in both families reduce the enzyme’s activity.

To investigate the gene’s effects on the body, the researchers created transgenic mice with the same CKI? mutation found in the original family. everal tests suggested that the mutant mice had many characteristics akin to human migraines. When treated with a migraine-triggering compound, the mice showed increased sensitivity to pain. Imaging and electrophysiological studies showed waves of brain activity and brain artery dilation believed to be similar to what occurs during migraine auras in humans.

Studies by other groups have linked unusual forms of migraine to proteins involved in transporting ions across membranes. CKI? codes for a different kind of protein that affects many biological pathways, which might now be studied as potential contributors to migraines.

这是第一个突变导致偏头痛形成的基因，“Ptácek说。 这是我们最初看到一个我们还不懂的黑盒子。