Araştırmacılar anormal bir geni hem yaygın bir migren tipi hem de nadir bir uyku bozukluğu ile ilişkilendirdi. Bulgu migren mekanizmalarına dair bir fikir veriyor ve tedavi seçeneklerini keşfetmek için yeni bir yol sunuyor.

Bazı tahminlere göre, 1'teki 10'ten daha fazla kişi, genellikle migren olarak bilinen, nabzı atan veya zonklayan ağrı eşliğinde yoğun baş ağrıları yaşar. Migren hastalarının yaklaşık üçte biri, baş ağrısı başlamadan kısa bir süre önce migren havası olarak bilinen görsel veya duyusal rahatsızlıklar da yaşar. Migrenin nedenleri tam olarak anlaşılmamasına rağmen, durumun ailelerde çalıştığı bilinmektedir ve bu nedenle genlerin büyük olasılıkla bir rolü vardır.

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.

Bu, mutasyonların çok tipik bir migren formuna neden olduğu gösterilen ilk gendir ”diyor Ptácek. Henüz anlamadığımız bir kara kutuya ilk bakışımız.