Alzheimer's disease (AD) is the most common neurodegenerative disease which is characterized by the formation of amyloid beta (Aβ) plaques and neurofibrillary tangles. These abnormal proteins induce disturbance in mitochondrial dynamics and defect in autophagy system. Since presenilin‐1 (PS1) is a core component in γ‐secretase complex, the mutations of PS1 gene cause the interference of γ‐secretase activity and lead to the increased Aβ42 secretion. We aimed to characterize the patient‐specific induced pluripotent stem cell (iPSC) line carrying PS1‐S170F mutation. Furthermore, we tested whether disease‐modifying drug can reduce AD pathology in the AD iPSC‐derived neurons.

中文翻译：

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携带早老素-1 突变 (S170F) 的早发性阿尔茨海默病患者的诱导多能干细胞衍生皮质神经元的病理表现

阿尔茨海默病 (AD) 是最常见的神经退行性疾病，其特征是形成淀粉样蛋白 β (Aβ) 斑块和神经原纤维缠结。这些异常蛋白质会导致线粒体动力学紊乱和自噬系统缺陷。由于早老素-1（PS1）是γ-分泌酶复合物的核心成分，PS1基因的突变会干扰γ-分泌酶活性，导致Aβ42分泌增加。我们旨在表征携带 PS1-S170F 突变的患者特异性诱导多能干细胞 (iPSC) 系。此外，我们测试了疾病缓解药物是否可以减少 AD iPSC 衍生神经元中的 AD 病理。