Fig. 3

Cell-based model to assess the impact of variants of unknown significance in PSEN1 on Aβ levels. A Diagram of the location of variants of unknown significance in PSEN1. B Mouse N2A-PS1/PS2 KO cells were transiently transfected with plasmids containing APP WT and PSEN1 WT, known pathogenic mutation (ΔE9), or a variant of unknown significance. After 48 h, media was collected and analyzed for Aβ42 and Aβ40 by ELISA. B. Ratio of Aβ42/40 expressed relative to PSEN1 WT. Aβ42 (white box) and Aβ40 (gray box) levels expressed relative to PSEN1 WT. Graphs represent mean ± SEM. Significance indicated by Dunnett’s t-test (*, p < .05). C. Cells lysates were analyzed by SDS-PAGE and immunoblotting as described in the “Methods” section. Immunoblots were probed with 6E10 (full-length APP). The immunoblot is representative of 2 independent experiments