Role of Aß42 in AD
Trisomy 21 and the many PS1, PS2, and ßAPP mutations linked to early onset familial AD all increase the extracellular concentration of Aß42 or of both Aß40 and Aß42.
- There is a broad consensus for this based on studies of plasma and fibroblasts from patients, transfected cells, and transgenic mice.
- Thus, a fundamental effect of all genetic forms of AD is to increase the extracellular concentration of Aß42 - a change that will foster the extracellular Aß deposition that is invariably observed in AD.