A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)

We report a novel mutation in the amyloid precursor protein gene (APPI716V) which probably leads to familial early onset Alzheimer's diseasewith an onset age in the mid 50s. Cells transfected with cDNAs bearing thismutation produce more A beta 1-42(43) than those transfected with wild-typeAPP and this effect is additive with that of the previously reported APPV717I mutation thus providing a novel approach for further increasing Abeta 1-42(43) in model systems.