APP、分泌酶、内体通路及其如何影响唐氏综合征阿尔茨海默病相关病理改变的研究进展

Boris Decourt, William Mobley, Eric Reiman, Raj Jatin Shah, Marwan N Sabbagh
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引用次数: 13

摘要

唐氏综合症是最常见的遗传疾病之一,每700个活产婴儿中就有一个患有唐氏综合症。21号染色体的三体导致APP的过度表达,这反过来又表明与AD相关的Aβ的产生增加。这使得DS成为超过PS1和PS2 FAD的最常见的老年性AD。由于大多数退行性痴呆患者会发展为痴呆,因此检查退行性痴呆和散发性AD是否具有共同特征非常重要,例如,预测未来的共同治疗方法。在这里,我们探讨了DS和AD中分泌酶和内体途径的共性和差异。
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Recent Perspectives on APP, Secretases, Endosomal Pathways and How they Influence Alzheimer's Related Pathological Changes in Down Syndrome.

Down syndrome is one of the most common genetic conditions occurring in one in 700 live births. The trisomy of chromosome 21 causes over-expression of APP which in turn is indicated in the increased production of Aβ associated with AD. This makes DS the most common presenile form of AD exceeding PS1 and PS2 FAD. Since a majority of DS individuals develop dementia, it is important to examine whether DS and sporadic AD share common features, for example, to anticipate shared treatments in the future. Here we explore commonalities and differences for secretases and endosomal pathways in DS and AD.

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