Early-Onset Alzheimer’s disease and amyloid precursor protein gene mutations

Abstract

Early-onset Alzheimer’s disease (EOAD) is a form of Alzheimer’s disease (AD) that usually manifests before the age of 65 years and is closely linked with a genetic mutation in the amyloid precursor protein (APP) gene. The processing of APP leads to amyloid-beta (Aβ) peptides, which combine to form plaques, a defining feature of Alzheimer’s disease. Neurodegeneration is accelerated by APP mutations, resulting in altered peptide characteristics or increased pathogenic amyloid-beta 42 (Aβ42) isoform synthesis. In this mini-review, we discuss the molecular pathways by which APP mutations cause EOAD and current treatment approaches that target APP-related circuits. Understanding how APP mutations contribute to EOAD of Alzheimer’s disease will help us in improving medicinal approaches for early intervention and treatment.