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当代阿耳茨海默病研究

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ISSN (Print): 1567-2050
ISSN (Online): 1875-5828

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Mini-Review Article

突触伸蛋白1在唐氏综合征阿尔茨海默病病理中的三重作用

卷 19, 期 12, 2022

发表于: 27 December, 2022

页: [795 - 807] 页: 13

弟呕挨: 10.2174/1567205020666221202102832

价格: $65

摘要

唐氏综合症(DS)是由人类21号染色体(Hsa21)的三倍复制引起的，是世界上最常见的智力残疾形式。最近医疗保健的进步导致退行性椎体滑移患者的寿命大幅增加。不幸的是，随着年龄的增长，大多数人会患上阿尔茨海默氏病，如痴呆症(DS-AD)。了解DSAD与其他形式的疾病(即晚发型AD (LOAD)和常染色体显性AD (ADAD))之间的异同，将为DS-AD的治疗提供重要线索。除了在AD患者大脑中发现的编码淀粉样斑块主要成分前体的APP基因外，Hsa21上的其他基因可能有助于疾病的发生和进展。这篇综述的重点是SYNJ1，编码磷酸肌醇磷酸酶synaptojanin 1 (SYNJ1)。首先，我们强调了SYNJ1在大脑中的功能。然后，我们总结了SYNJ1在人类遗传、转录组、蛋白质组和神经病理学水平上参与不同形式的AD。我们进一步研究了人类的结果是否与在小鼠和细胞模型中描述的疾病相关，并报告了SYNJ1与疾病进展之间可能的机制联系。最后，我们提出了一组问题，将进一步加强和阐明SYNJ1在不同形式的AD中的作用。

关键词: 突触伸蛋白1，唐氏综合征，阿尔茨海默病，晚发型，常染色体显性，遗传关联，神经病理学，疾病模型，APP，生长因子受体结合蛋白2 (Grb2)

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