Which genetic mutation is associated with Alzheimer's disease?

The genetic mutation associated with Alzheimer's disease is indeed linked to the amyloid precursor protein (APP). Mutations in the APP gene can lead to an abnormal processing of the protein, resulting in the accumulation of beta-amyloid plaques, which are one of the hallmark features of Alzheimer's disease. This accumulation disrupts communication between neurons and contributes to neurodegeneration, ultimately leading to the symptoms of Alzheimer's.

APP is particularly significant in familial forms of Alzheimer's disease, which can arise from inherited mutations. The role of APP in the disease process highlights the potential for targeting amyloid-beta in therapeutic strategies aimed at treating or preventing Alzheimer’s.

It's important to distinguish APP mutations from other genetic components mentioned. While Apo E2, for instance, is a variant of apolipoprotein E associated with a lower risk of Alzheimer's, and presenilin mutations are also linked to familial Alzheimer's disease, they specifically relate to changes in the gamma-secretase complex or other aspects of amyloid processing. Alpha-synuclein, on the other hand, is predominantly associated with Parkinson's disease rather than Alzheimer’s. Therefore, mutations in APP represent a direct genetic link to the pathology of Alzheimer's disease, making it the correct choice in this context.