日本研究人員在24日的美國(guó)《國(guó)家科學(xué)院學(xué)報(bào)》網(wǎng)絡(luò)版上發(fā)表論文說(shuō),，他們發(fā)現(xiàn)一個(gè)與偏頭疼有關(guān)的基因,。該成果有助于了解偏頭疼的發(fā)病機(jī)制，并為以該基因?yàn)榘邢蜷_(kāi)發(fā)治療藥物奠定了基礎(chǔ),。
東京大學(xué)講師關(guān)常司等人在研究中發(fā)現(xiàn),，在NBCe1基因異常的人中,，很多都有偏頭疼癥狀。進(jìn)一步的細(xì)胞培養(yǎng)發(fā)現(xiàn),，如果“NBCe1”基因出現(xiàn)異常,，氫離子濃度的調(diào)節(jié)就會(huì)紊亂，使神經(jīng)細(xì)胞異常興奮,，從而導(dǎo)致偏頭疼,。
偏頭疼的具體發(fā)病機(jī)制尚屬未知,。但醫(yī)學(xué)界普遍認(rèn)為,，神經(jīng)細(xì)胞的過(guò)度興奮是導(dǎo)致偏頭疼的重要原因。（生物谷Bioon.com）
生物谷推薦原文出處：
PNAS doi: 10.1073/pnas.1008705107
Defective membrane expression of the Na+-HCO3? cotransporter NBCe1 is associated with familial migraine
Masashi Suzukia, Wim Van Paesschenb, Ingeborg Stalmansc, Shoko Horitaa, Hideomi Yamadaa, Bruno A. Bergmansb, Eric Legiusd, Florence Riante, Peter De Jonghef, Yuehong Lia, Takashi Sekineg, Takashi Igarashih, Ichiro Fujimotoi, Katsuhiko Mikoshibaj, Mitsunobu Shimadzuk, Masaaki Shioharal, Nancy Bravermanm, Lihadh Al-Gazalin, Toshiro Fujitaa, and George Sekia,1
Homozygous mutations in SLC4A4, encoding the electrogenic Na+-HCO3? cotransporter NBCe1, have been known to cause proximal renal tubular acidosis (pRTA) and ocular abnormalities. In this study, we report two sisters with pRTA, ocular abnormalities, and hemiplegic migraine. Genetic analysis ruled out pathological mutations in the known genes for familial hemiplegic migraine, but identified a homozygous 65-bp deletion (Δ65bp) in the C terminus of NBCe1, corresponding to the codon change S982NfsX4. Several heterozygous members of this family also presented glaucoma and migraine with or without aura. Despite the normal electrogenic activity in Xenopus oocytes, the Δ65bp mutant showed almost no transport activity due to a predominant cytosolic retention in mammalian cells. Furthermore, coexpression experiments uncovered a dominant negative effect of the mutant through hetero-oligomer formation with wild-type NBCe1. Among other pRTA pedigrees with different NBCe1 mutations, we identified four additional homozygous patients with migraine. The immunohistological and functional analyses of these mutants demonstrate that the near total loss of NBCe1 activity in astrocytes can cause migraine potentially through dysregulation of synaptic pH.
