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阿尔茨海默病的遗传学:旧假说的新证据?

Genetics of Alzheimer's disease: new evidences for an old hypothesis?

机构信息

INSERM U744, Institut Pasteur de Lille, Université de Lille Nord de France, F-59000 Lille, France.

出版信息

Curr Opin Genet Dev. 2011 Jun;21(3):295-301. doi: 10.1016/j.gde.2011.02.002. Epub 2011 Mar 1.

Abstract

Alzheimer's disease (AD) is the prime cause of dementia and presents a strong genetic predisposition (60-80% of the attributable risk). In addition to APOE, a major recognized genetic determinant of AD, systematic, high-throughput genomic approaches have recently allowed the characterization of four new genetic determinants: CLU, CR1, PICALM and BIN1. Even if the complete picture of AD genetics is still not fully understood, the characterization of these new AD genetic determinants is probably going to strongly modify our perception of the pathophysiological process involved in AD. The new AD genetic landscape suggests that the common and late-onset forms of the disease are associated with a defect in peripheral Aβ peptide clearance, implying that the amyloid cascade hypothesis could be relevant not only in the AD monogenic forms.

摘要

阿尔茨海默病(AD)是痴呆的主要病因,具有很强的遗传易感性(可归因风险的 60-80%)。除 APOE 外,AD 的一个主要公认遗传决定因素,系统的、高通量基因组方法最近还允许鉴定四个新的遗传决定因素:CLU、CR1、PICALM 和 BIN1。即使 AD 遗传学的全貌仍未完全理解,这些新的 AD 遗传决定因素的特征可能会强烈改变我们对 AD 涉及的病理生理过程的认识。新的 AD 遗传图谱表明,常见的和发病较晚的疾病形式与外周 Aβ肽清除缺陷有关,这意味着淀粉样蛋白级联假说不仅与 AD 的单基因形式有关。

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