在APP的突变保护阿尔茨海默病和与年龄相关的认知衰退
Thorlakur Jonsson1, Jasvinder K Atwal, Stacy Steinberg
1deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
Nature
|July 18, 2012
概括
在粉样β前体蛋白 (APP) 基因中发现了一种特定的基因突变,A673T,可以预防阿尔茨海默病. 这一发现为减少认知衰退提供了一个新的治疗目标.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 生物化学 生物化学
背景情况:
- 在西方国家,痴呆症影响了超过5%的60岁以上的人群,阿尔茨海默氏症占病例的三分之二.
- 阿尔茨海默病的患病率随着年龄的增长而显著增加,在65岁后每五年几乎翻一番.
- 识别影响阿尔茨海默病风险的遗传因素对于开发有效干预措施至关重要.
研究的目的:
- 调查粉样β前体蛋白 (APP) 基因中低频编码变异对它们对阿尔茨海默病风险的影响.
- 为了确定APP基因中的特定突变,这些突变可能会对阿尔茨海默病产生保护.
主要方法:
- 对1795名冰岛人进行了全基因组测序,以分析APP基因中的编码变异.
- 在体外实验中进行了实验,以评估已识别的突变对粉样形成的功能影响.
主要成果:
- 在APP基因中发现了一种特定的编码突变,A673T.
- A673T突变显示出对阿尔茨海默病和与年龄相关的认知能力下降有显著的保护作用.
- 实验室研究表明,A673T可以减少大约40%的氨基类的形成.
结论:
- A673T突变提供了强有力的证据,表明减少APP的β分裂可以预防阿尔茨海默病.
- 抗阿尔茨海默病和一般认知衰退的A673T的保护机制可能涉及类似的途径.
- 这一发现支持开发针对APP处理的治疗策略,以预防和治疗阿尔茨海默病.
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