Fig. 3
From: Alzheimer’s disease – the journey of a healthy brain into organ failure
Functional impact of genes linked to AD or risk for AD. Pivotal support for the ACH comes from genetic pathological, biomarker and experimental studies that link genes that cause EOFAD or alter risk for AD to Aβ aggregation and accumulation. Mutants and variants that increase risk alter Aβ in a manner that promotes deposition as amyloid. Conversely other variants appear to decrease the likelihood of Aβ aggregation and accumulation. AD genes, enriched in microglial cells, may modulate Aβ deposition, responses to aggregated Aβ or tau pathology, or both. Mutations in tau associated with FTD reinforce the notion that tau aggregation and accumulation is an important feature of AD