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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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Research Article

癌症患者痴呆症相关基因体细胞突变的鉴定

卷 17, 期 9, 2020

页: [835 - 844] 页: 10

弟呕挨: 10.2174/1567205017666201203124341

价格: $65

摘要

背景：痴呆症是大脑疾病的总称，包括阿尔茨海默氏病（AD），τ病和突触核病。迄今为止，痴呆症相关基因的体细胞突变包括淀粉样蛋白前体蛋白（APP）基因，早老素1（PSEN1）基因，PSEN2基因，微管相关蛋白tau（MAPT）基因，α-突触核蛋白（SNCA）基因和亮氨酸丰富的重复激酶2（LRRK2）基因，已被认为是痴呆的原因之一。我们质疑痴呆症相关基因中的体细胞突变对癌症的影响。 方法：在本研究中，我们调查了APP，PSEN1，PSEN2，MAPT，SNCA和LRRK2基因的体细胞突变以及这些体细胞突变的影响。 结果：从癌症基因组图谱（TCGA）数据库中，我们在癌症患者的APP，PSEN1，PSEN2，MAPT，SNCA和LRRK2基因中发现了1,643个体细胞突变。令人惊讶的是，与总癌症患者中癌症类型的分布相比，痴呆相关基因中的体细胞突变在胶质母细胞瘤患者中的分布极低。 结论：据我们所知，这是癌症患者痴呆相关基因的首次研究。

关键词: 体细胞突变，痴呆，APP，PSEN1，PSEN2，MAPT，SNCA，LRRK2，胶质母细胞瘤。

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