小鼠脑海绵状血管瘤模型  

Murine models of cerebral cavernous malformations

作　　者：旷诗琪 林晶 陈琳 Kuang Shiqi;Lin Jing;Chen Lin(Department of Neurology,the Second Affiliated Hospital of Nanhua University,Hengyang 421000,China;Department of Neurology,the First Affiliated Hospital of Nanchang University,Nanchang 330000,China)

机构地区：[1]南华大学附属第二医院神经内科,衡阳421000 [2]南昌大学附属第一医院神经内科,南昌330000

出　　处：《国际脑血管病杂志》2023年第11期868-874,共7页International Journal of Cerebrovascular Diseases

基　　金：湖南省科技厅湖南省临床医学研究中心和临床医疗技术示范基地项目(2023SK4050)。

摘　　要：脑海绵状血管瘤(cerebral cavernous malformation,CCM)是一种常见的脑血管畸形,发病率为0.16%~0.5%。CCM可以散发性和家族性形式存在,后者以常染色体显性方式遗传,其发病与CCM1、CCM2和CCM3基因突变有关,这些基因的体细胞突变是发生脑部病变的基础。为了探索CCM的发病机制以及寻找治疗靶点,已构建多种CCM动物模型,为CCM的病理生理学机制研究提供了帮助。然而,每种CCM模型均有各自的优缺点和适用性。小鼠是最常用于构建CCM模型的动物。因此,文章归纳了目前小鼠CCM模型的特点及其研究进展。Cerebral cavernous malformations(CCMs)are the common cerebrovascular malformation.Its incidence was 0.16%-0.5%.CCM can exist in both sporadic and familial forms,with the latter being inherited in an autosomal dominant manner.Its pathogenesis is associated with mutations in the CCM1,CCM2,and CCM3 genes.The somatic mutations of these genes are the basis for the occurrence of brain lesions.In order to explore the pathogenesis of CCM and identify therapeutic targets,various CCM animal models have been developed,providing assistance for the study of the pathological and physiological mechanisms of CCM.However,each CCM model has its own advantages,disadvantages,and applicability.Mice are the most commonly used animals to model CCM.Therefore,this article summarizes the characteristics and research progress of current murine CCM models.

关 键 词：血管瘤 海绵状 中枢神经系统 疾病模型 动物 小鼠 小鼠 基因敲除 

分 类 号：R743.4[医药卫生—神经病学与精神病学] R-332[医药卫生—临床医学]