ABCB1基因多态性与难治性癫痫  

Association between intractable epilepsy and polymorphism in ABCB1 gene

作　　者：董琳[1] 俞丹[1] 毛萌[1,2] 

机构地区：[1]四川大学华西第二医院儿科,成都610041 [2]四川大学华西第二医院发育与疾病实验室,成都610041

出　　处：《生命的化学》2010年第1期123-126,共4页Chemistry of Life

基　　金：国家青年自然科学基金项目(2008-30700908)资助

摘　　要：近年来,难治性癫痫的病因与多药耐药基因以及多药耐药基因与抗癫痫治疗的因果关系越来越受到关注。P糖蛋白(P-glycopretein,P-gp)是由ATP结合盒B亚家族成员1转运蛋白基因(ATP-binding cassette subfamily B member 1 transporter gene,ABCB1)编码的产物。它不仅可以限制抗癫痫药物(antiepileptic drug,AED)的消化道吸收,而且可以在细胞和亚细胞水平调控药物在中枢神经系统的运输过程。除了生理和环境因素的影响,P-gp的功能和表达的变化可能主要取决于ABCB1基因的多态性,这是目前研究得最广泛、最深入的多药耐药机制。本文就目前ABCB1基因多态性与难治性癫痫的相关性研究进展作一综述。In recent years, the association between the intractable epilepsy etiology, the therapeutic effects of intractable epilepsy and the polymorphisms of ATP-binding cassette subfamily B member 1 transporter gene （ABCB1） has been of great concern. P-glyeoprotein （P-gp） is the encoding protein of the ABCB1 gene. P-gp not only plays a role in drug-resistant epilepsy by limiting gastrointestinal absorption and brain access of antiepileptic drug （AED）, but also regulates and controls drug transportation process in central nervous system at cellular and subcellular level. Besides the inf/uence of physiological and environmental factors, the expression and function of P-gp largely depend on ABCB1 gene polymorphisms. The ABCB1 gene polymorphisms-mediated mechanism for MDR has been intensively discussed.

关 键 词：ATP结合盒亚科B运载体1基因(ABCB1)P糖蛋白(P—gP) 基因多态性 单核苷酸多态性 难治性癫痫 抗癫痫药物(AED) 

分 类 号：R742.1[医药卫生—神经病学与精神病学]