Final answer:
Mutations in the APP gene can alter enzyme cleavage sites, leading to increased production and aggregation of longer beta-amyloid peptides, contributing to plaque formation and Alzheimer's disease pathogenesis.
Step-by-step explanation:
Mutations in the APP gene can significantly impact the enzymes associated with beta-amyloid (Aβ) generation, which is central to the pathology of Alzheimer's disease. The APP protein undergoes enzymatic cleavage to produce Aβ peptides. When there are mutations in the APP gene, the resulting protein may be cleaved aberrantly, leading to an increase in the production of Aβ peptides that are prone to aggregate into plaques. For example, certain mutations could alter the recognition site of secretases, which are enzymes that normally cleave APP, thereby shifting the balance towards producing longer, more aggregation-prone Aβ peptides. These modifications in Aβ production and aggregation contribute to plaque formation, ultimately resulting in neurodegeneration and Alzheimer's pathology.