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当代阿耳茨海默病研究

Editor-in-Chief

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

Research Article

MAOB rs1799836 单核苷酸多态性与 APOE ɛ4 等位基因在阿尔茨海默病中的关联

卷 18, 期 7, 2021

发表于: 17 September, 2021

页: [585 - 594] 页: 10

弟呕挨: 10.2174/1567205018666210917162843

价格: $65

摘要

背景:多巴胺能系统在阿尔茨海默病 (AD) 中功能受损。参与多巴胺降解的酶单胺氧化酶 B (MAOB) 的活性在 AD 期间增加。此外,AD 患者死后海马和新皮质中 MAOB 的表达增加。 MAOB rs1799836 多态性调节 MAOB 转录,从而影响蛋白质翻译和 MAOB 活性。我们最近发现,携带 MAOB rs1799836 多态性中的 A 等位基因的患者的脑脊液β1-42 水平降低。 目的:本研究比较了 MAOB rs1799836 多态性和 APOE,这是散发性 AD 的唯一确定的遗传危险因素。 方法:我们纳入了 253 名参与者,其中 127 人患有 AD,57 人患有轻度认知障碍,11 人是健康对照者,58 人患有其他主要痴呆症。 MAOB 和 APOE 多态性使用 TaqMan SNP 基因分型分析确定。 结果:我们观察到,在携带 AA MAOB rs1799836 基因型的患者中,APOE ɛ4/ɛ4 纯合子和 APOE ɛ4 携带者的频率显着增加。 结论:这些结果表明 MAOB rs1799836 多态性是 AD 的潜在遗传生物标志物,也是治疗 AD 中多巴胺能传递减少和认知恶化的潜在靶点。

关键词: 阿尔茨海默病、MAOB、APOE、多态性、遗传生物标志物、轻度认知障碍。

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