Mutations of beta-amyloid precursor protein alter the consequence of Alzheimer's disease pathogenesis.

ABSTRACT: Alzheimer's disease is pathologically defined by accumulation of extracellular amyloid-β (Aβ). Approximately 25 mutations in β-amyloid precursor protein (APP) are pathogenic and cause autosomal dominant Alzheimer's disease. To date, the mechanism underlying the effect of APP mutation on Aβ generation is unclear. Therefore, investigating the mechanism of APP mutation on Alzheimer's disease may help understanding of disease pathogenesis. Thus, APP mutations (A673T, A673V, E682K, E693G, and E693Q) were transiently co-transfected into human embryonic kidney cells. Western blot assay was used to detect expression levels of APP, beta-secretase 1, and presenilin 1 in cells. Enzyme-linked immunosorbent assay was performed to determine Aβ_1-40 and Aβ_1-42 levels. Liquid chromato

SUBMITTER: Li NM 

PROVIDER: S-EPMC6352587 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature