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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >A unique gene expression signature discriminates familial Alzheimer's disease mutation carriers from their wild-type siblings.
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A unique gene expression signature discriminates familial Alzheimer's disease mutation carriers from their wild-type siblings.

机译：独特的基因表达特征将家族性阿尔茨海默氏病突变携带者与野生型同胞区分开。

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Alzheimer's disease (AD) is a neurodegenerative disease with an insidious onset and progressive course that inevitably leads to death. The current diagnostic tools do not allow for diagnosis until the disease has lead to irreversible brain damage. Genetic studies of autosomal dominant early onset familial AD has identified three causative genes: amyloid precursor protein (APP), presenilin 1 and 2 (PSEN1 and PSEN2). We performed a global gene expression analysis on fibroblasts from 33 individuals (both healthy and demented mutation carriers as well as wild-type siblings) from three families segregating the APP(SWE), APP(ARC) and PSEN1 H163Y mutations, respectively. The mutations cause hereditary progressive cognitive disorder, including typical autosomal dominant AD. Our data show that the mutation carriers share a common gene expression profile significantly different from that of their wild-type siblings. The results indicate that the disease process starts several decades before the onset of cognitive decline, suggesting that presymptomatic diagnosis of AD and other progressive cognitive disorders may be feasible in the near future.
机译：阿尔茨海默氏病（AD）是一种神经退行性疾病，具有隐匿的发作和进行性病程，不可避免地导致死亡。在疾病导致不可逆的脑损伤之前，当前的诊断工具无法进行诊断。对常染色体显性遗传的早期家族性AD的遗传研究已确定了三种致病基因：淀粉样蛋白前体蛋白（APP），早老素1和2（PSEN1和PSEN2）。我们对来自分别分离APP（SWE），APP（ARC）和PSEN1 H163Y突变的三个家族的33个个体（健康和痴呆突变携带者以及野生型同胞）的成纤维细胞进行了全局基因表达分析。突变引起遗传性进行性认知障碍，包括典型的常染色体显性AD。我们的数据表明，突变携带者共有一个与野生型同胞显着不同的共同基因表达谱。结果表明，该疾病过程在认知能力下降发作之前开始了几十年，这表明在不久的将来对AD和其他进行性认知障碍的症状前诊断可能是可行的。

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