【摘要】：Notch3信號(hào)傳導(dǎo)通路與神經(jīng)系統(tǒng)發(fā)育和血管結(jié)構(gòu)完整性密切相關(guān),由Notch3基因編碼的受體蛋白胞外區(qū)的表皮生長因子樣重復(fù)序列(EGFR)突變是常染色體顯性遺傳性腦動(dòng)脈病伴皮質(zhì)下梗死和白質(zhì)腦病(CADASIL)的決定性發(fā)病機(jī)制。目前關(guān)于CADASIL疾病治療尚無有效的方法,鑒于Notch3信號(hào)通路在CADASIL發(fā)病機(jī)制中的作用,針對(duì)Notch3的基因療法成為研究CADASIL治療的熱點(diǎn)。本文針對(duì)Notch3信號(hào)通路與CADASIL發(fā)病的關(guān)系以及潛在的治療方式進(jìn)行綜合論述,以期對(duì)CADASIL的臨床診治提供一定的參考。
[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.
【作者單位】： 北京大學(xué)人民醫(yī)院神經(jīng)內(nèi)科;
【分類號(hào)】：R743

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