CAJ | 학술논문

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≥100 μm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<100 μm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.
목적 보도Notch3기인돌변후미소동맥혈관평활기세포상관단백적표체특점.방법 6개CADASIL가계선증자적진단균경과혈관초미병리검사화Notch3기인검사가이증실.대6례선증자적비장신경표본진행면역병리검사,제일항체위항α-평활기기동단백、기구단백중련、결단백화파형단백.결과 직경≥100 μm적미소동맥평활기세포출현α-평활기기동단백、기구단백중련화결단백불동정도감소,이파형단백표체증강.직경<100 μm적미소동맥평활기세포출현기구단백중련화결단백감소,α-평활기기동단백감소불명현,파형단백표체증강.결론 불동Notch3기인돌변균가이도치불동직경적미소동맥평활기세포처우합성상태,기중대직경적미소동맥개변경명현.
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 vimenfin 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.