脑血管狭窄发病机制不清使缺血性脑卒中的防治陷入"瓶颈"。近年来，Ⅰ型神经纤维瘤病（NF1）的NF1基因与血管病变的关系是血管病发病机制研究的热点之一。本组临床偶然发现一合并脑血管狭窄的NF1家系,基因筛查显示家系患者的NF1基因存在一共同的Q181X突变，并由此产生包含180个氨基酸的截短蛋白（NF1-180mut），该蛋白对脑血管内皮细胞和平滑肌细胞有怎样的作用？与脑血管狭窄是否有因果关系？ 课题拟通过脑血管内皮细胞/平滑肌细胞系过表达NF1-180mut，初步明确该蛋白对两种细胞的直接或间接作用，从而初步明确NF1-180mut与脑血管内皮细胞及平滑肌细胞的关系,有望发现脑血管狭窄新的遗传背景。

The pathogenesis of ischemic stroke is not completely clear. This makes prevention to cerebral vascular stenosis fall into" bottleneck". In recent years, The relationship between NF1 gene (Diversiform mutation of NF1 gene can cause neurofibromatosis) and cerebral vascular stenosis is becoming a new research hotspot. One NF1 family combined with cerebrovascular stenosis was found by us. The common feature in the NF1 patients was Q181X mutation in NF1 gene. Truncated protein (180 amino acids, NF1-180mut) was produced. The role of NF1-180mut caused our research interests. NF1 is constitutively expressed in vascular endothelial cells and vascular smooth muscle cells.With NF1-180mut as the breakthrough point, we plan to over-express NF1-180mut in cerebrovascular endothelial cells and cerebrovascular smooth muscle cells. And then direct or indirect effect of this protein on cerebrovascular cells is figure out after series of experiments. We expect to preliminary confirm the relationship between NF1-180mut and cerebrovascular stenosis and discover new genetic background and new therapeutic targets for some cerebral vascular stenosis.