伴有皮质下梗死和白质脑病的常染色体显性遗传脑动脉病发病机制的研究进展

Progress in the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

伴有皮质下梗死和白质脑病的常染色体显性遗传脑动脉病是由Notch3基因突变引起的脑小血管疾病。Notch3基因编码的Notch3蛋白主要在血管平滑肌细胞、周细胞及内皮细胞中表达。Notch3基因突变导致Notch3蛋白结构和功能改变,影响血管平滑肌细胞、周细胞及内皮细胞的结构及功能,进而引起脑血流调节异常等神经血管功能障碍,最终导致脑小血管的病变。本文就其发病机制的研究进展作一综述。

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is a cerebral small vessel disease caused by Notch3 gene mutation.Notch3 protein encoded by Notch3 gene is mainly expressed in vascular smooth muscle cells, pericytes and endothelial cells.Notch3 gene mutation leads to the changes in the structure and function of Notch3 protein, which affects the structure and function of vascular smooth muscle cells, pericytes and endothelial cells, causes neurovascular dysfunction such as abnormal cerebral blood flow regulation, and ultimately leads to cerebral small vessel disease. This paper reviews the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.