Notch3信号通路与常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病相关性研究现状
发布时间：2018-08-31 17:28
【摘要】：Notch3信号传导通路与神经系统发育和血管结构完整性密切相关,由Notch3基因编码的受体蛋白胞外区的表皮生长因子样重复序列(EGFR)突变是常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病(CADASIL)的决定性发病机制。目前关于CADASIL疾病治疗尚无有效的方法,鉴于Notch3信号通路在CADASIL发病机制中的作用,针对Notch3的基因疗法成为研究CADASIL治疗的热点。本文针对Notch3信号通路与CADASIL发病的关系以及潜在的治疗方式进行综合论述,以期对CADASIL的临床诊治提供一定的参考。
[Abstract]:The signal transduction pathway of Notch3 is closely related to the development of nervous system and the integrity of vascular structure. The epidermal growth factor like repeat (EGFR) mutation in the extracellular domain of receptor protein encoded by Notch3 gene is the decisive mechanism of autosomal dominant cerebral artery disease with subcortical infarction and leukoencephalopathy (CADASIL). At present, there is no effective method for the treatment of CADASIL disease. In view of the role of Notch3 signaling pathway in the pathogenesis of CADASIL, gene therapy for Notch3 has become the focus of CADASIL therapy. In this paper, the relationship between Notch3 signaling pathway and the pathogenesis of CADASIL and the potential treatment methods are discussed comprehensively, in order to provide some reference for the clinical diagnosis and treatment of CADASIL.
【作者单位】： 北京大学人民医院神经内科;
【分类号】：R743
本文编号：2215672
[Abstract]:The signal transduction pathway of Notch3 is closely related to the development of nervous system and the integrity of vascular structure. The epidermal growth factor like repeat (EGFR) mutation in the extracellular domain of receptor protein encoded by Notch3 gene is the decisive mechanism of autosomal dominant cerebral artery disease with subcortical infarction and leukoencephalopathy (CADASIL). At present, there is no effective method for the treatment of CADASIL disease. In view of the role of Notch3 signaling pathway in the pathogenesis of CADASIL, gene therapy for Notch3 has become the focus of CADASIL therapy. In this paper, the relationship between Notch3 signaling pathway and the pathogenesis of CADASIL and the potential treatment methods are discussed comprehensively, in order to provide some reference for the clinical diagnosis and treatment of CADASIL.
【作者单位】： 北京大学人民医院神经内科;
【分类号】：R743
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