UK Dementia Research Institute, UCL Queen Square Institute of Neurology, London, United Kingdom.
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
PLoS One. 2022 May 11;17(5):e0262558. doi: 10.1371/journal.pone.0262558. eCollection 2022.
Individuals who have Down syndrome (trisomy 21) are at greatly increased risk of developing Alzheimer's disease, characterised by the accumulation in the brain of amyloid-β plaques. Amyloid-β is a product of the processing of the amyloid precursor protein, encoded by the APP gene on chromosome 21. In Down syndrome the first site of amyloid-β accumulation is within endosomes, and changes to endosome biology occur early in Alzheimer's disease. Here, we determine if primary mouse embryonic fibroblasts isolated from a mouse model of Down syndrome can be used to study endosome and APP cell biology. We report that in this cellular model, endosome number, size and APP processing are not altered, likely because APP is not dosage sensitive in the model, despite three copies of App.
患有唐氏综合征(21 三体)的个体患阿尔茨海默病的风险大大增加,其特征是大脑中淀粉样β斑块的积累。淀粉样β是淀粉样前体蛋白加工的产物,由 21 号染色体上的 APP 基因编码。在唐氏综合征中,淀粉样β的第一个积累部位是在内体中,并且内体生物学的变化在阿尔茨海默病的早期发生。在这里,我们确定是否可以使用从唐氏综合征小鼠模型中分离的原代小鼠胚胎成纤维细胞来研究内体和 APP 细胞生物学。我们报告说,在这种细胞模型中,内体数量、大小和 APP 加工没有改变,这可能是因为尽管模型中有三个 APP 拷贝,但 APP 没有剂量敏感性。