抗富亮氨酸胶质瘤失活1蛋白相关癫痫的致病机制  

Pathogenesis of Leucine-rich Glioma Inactivated 1 Associated Epilepsy

作　　者：邵洪雪 张忠玲[1] SHAO Hongxue;ZHANG Zhongling(Department of Neurology,the First Affiliated Hospital of Harbin Medical University,Harbin 150001,China)

机构地区：[1]哈尔滨医科大学附属第一医院神经内科,哈尔滨150001

出　　处：《医学综述》2020年第20期4027-4031,4037,共6页Medical Recapitulate

摘　　要：癫痫是一种由脑神经元异常放电引起的短暂性脑功能障碍,是神经系统疾病中发病率最高的疾病之一,反复发作且具有较高的致残率,严重影响患者的生活质量。富亮氨酸胶质瘤失活1蛋白(LGI1)与癫痫的发生有密切联系,其基因突变导致常染色体显性遗传颞叶外侧癫痫,LGI1自身抗体与获得性自身免疫性边缘叶脑炎相关。其可以与解整合素金属蛋白酶22/23复合体相互作用形成跨突触蛋白调节海马突触传递;可以通过调节离子通道影响神经兴奋性;可以通过与Nogo受体1相互作用促进底物上的神经元生长;可以调控海马区谷氨酸神经元的发育。然而,LGI1在中枢神经系统中的致病机制仍有待进一步阐明。Epilepsy is a transient brain dysfunction caused by abnormal discharge of brain neurons.It is one of the diseases with the highest incidence among neurological diseases.It has recurrent attacks and a high disability rate,which seriously affects the quality of life of the patients.Leucine-rich glioma inactivated 1(LGI1)is closely related to the onset of epilepsy.Its gene mutation leads to autosomal dominant lateral temporal epilepsy while LGI1 autoantibodies lead to acquired autoimmune limbic encephalitis.It can interact with the dissociated integrin metalloproteinase 22/23 complex to form a cross-synaptic protein regulating hippocampal synaptic transmission.It can affect nerve excitability by regulating ion channels.It can promote that growth of neuron on the substrate through the interaction with Nogo receptor 1.It can regulate the development of glutamate neurons in the hippocampal region.However,the pathogenesis of LGI1 in the central nervous system remains to be further elucidated.

关 键 词：常染色体显性遗传颞叶外侧癫痫 脑炎 富亮氨酸胶质瘤失活1蛋白 

分 类 号：R742[医药卫生—神经病学与精神病学]