The HEK293 cells transfected with the plasmids containing the PSEN2 N141S, M239T, and I368F exhibit increased Aβ42 and Aβ42/Aβ40 in comparison to the wild-type PSEN2, indicating their contribution to Aβ42 production and AD pathogenesis. Here, PSEN2 is linked to Alzheimer disease.