Notch3基因突变导致动脉平滑肌细胞蛋白表达减少  

Notch3 gene mutation results in hypoplasia of arterial smooth muscle cells

作　　者：郑日亮[1] 栾兴华[1] 吕鹤[1] 张巍[1] 王朝霞[1] 袁云[1] 

机构地区：[1]北京大学第一医院神经内科,100034

出　　处：《中华神经科杂志》2009年第2期91-94,共4页Chinese Journal of Neurology

基　　金：基金项目：国家自然科学基金资助项目（30470595）;北京市自然科学基金资助项目（7052042）

摘　　要：目的报道Notch3基因突变后微小动脉血管平滑肌细胞相关蛋白的表达特点。方法6个CADASIL家系先证者的诊断均经过血管超微病理检查和Notch3基因检查加以证实。对6例先证者的腓肠神经标本进行免疫病理检查，第一抗体为抗α-平滑肌肌动蛋白、肌球蛋白重链、结蛋白和波形蛋白。结果直径≥100μm的微小动脉平滑肌细胞出现α-平滑肌肌动蛋白、肌球蛋白重链和结蛋白不同程度减少，而波形蛋白表达增强。直径〈100μm的微小动脉平滑肌细胞出现肌球蛋白重链和结蛋白减少，α-平滑肌肌动蛋白减少不明显，波形蛋白表达增强。结论不同Notch3基因突变均可以导致不同直径的微小动脉平滑肌细胞处于合成状态，其中大直径的微小动脉改变更明显。Objective To describe the changes of cell development associated contracture and structure proteins in vascular smooth muscle cells （VSMCs） in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL） . Methods The clinical manifestation of probands in 6 families showed the recurrent cerebral ischemic event. A part of patients showed dementia. The genetic analysis in all probands showed Notch3 gene mutation. All probands received the sural nerve biopsy. The primary antibodies against α-smooth muscle actin, smooth muscle myosin heavy chain, desmin and vimentin were used in immunohistochemistry staining on all of them. Results VSMCs showed hypertrophy or atrophy in the arterioles with different caliber. The granular osmiophilic material （GOM） could be found within the basal lamina of arteriole VSMCs in all of the probands. The expressions of α- smooth muscle actin and smooth muscle myosin heavy chain were partly lost, negative or unevenly distributed in the VSMCs in the arteriole. The expression of desmin showed also unregular distribution or partial loss. The expression of vimentin was partly enhanced. Conclusions The VSMCs show the physiological features of synthetic configuration, indicating the hypoplasia of VSMCs in the arterioles of CADASIL. The VSMCs of the larger arteriole were more severely involved.

关 键 词：CADASIL 肌 平滑 血管 腓肠神经 受体 NOTCH 

分 类 号：R686[医药卫生—骨科学]