A remarkable rise in life expectancy during the past century has made Alzheimer's disease (AD) the most common form of progressive cognitive failure in humans. Compositional analyses of the classical brain lesions, the senile (amyloid) plaques and neurofibrillary tangles, preceded and has guided the search for genetic alterations. Four genes have been unequivocally implicated in inherited forms of AD, and mutations or polymorphisms in these genes cause excessive cerebral accumulation of the amyloid beta-protein and subsequent neuronal and glial pathology in brain regions important for memory and cognition. This understanding of the genotype-to-phenotype conversions of familial AD has led to the development of pharmacological strategies to lower amyloid beta-protein levels as a way of treating or preventing all forms of the disease.

中文翻译：

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破译阿尔茨海默氏病的遗传基础。

在过去的一个世纪中，预期寿命的显着增长使阿尔茨海默氏病（AD）成为人类进行性认知衰竭的最常见形式。对经典脑损伤，老年斑（淀粉样蛋白）斑块和神经原纤维缠结的成分分析先于进行，并已指导寻找遗传改变。四个基因已明确地牵涉到遗传形式的AD中，这些基因中的突变或多态性会导致淀粉样β蛋白的过度大脑蓄积，以及随后在对记忆和认知重要的大脑区域出现神经元和神经胶质病理。对家族性AD的基因型到表型转化的这种理解导致了药理学策略的发展，以降低淀粉样β蛋白水平作为治疗或预防所有形式疾病的一种方式。