What is the significance of PSEN2 in Alzheimer's disease pathology?
PSEN2 plays a critical role in the pathogenesis of Alzheimer’s disease. The gamma-secretase complex, of which PSEN2 is a part, is responsible for the cleavage of APP into amyloid-beta peptides. Mutations in PSEN2 can alter this cleavage process, leading to an increased production of the toxic amyloid-beta 42 peptide. This peptide aggregates to form the amyloid plaques characteristic of Alzheimer’s disease, contributing to neuronal death and cognitive decline observed in patients.
