A New Pathogenic Mutation in the APP Gene (I716V) Increases the Relative Proportion of A 42(43)
Chris Eckman(Mayo Clinic in Florida), Nitin D. Mehta(Jacksonville College), Richard Crook(University of South Florida), Jordi Pérez‐Tur(University of South Florida), Guy Prihar(University of South Florida), E. Pfeiffer(University of South Florida), Neill R. Graff‐Radford(Jacksonville College), P. Hinder(Jacksonville College), Debra Yager(Jacksonville College), B. Zenk(Mayo Clinic in Florida), Lorenzo M. Refolo(Mayo Clinic in Florida), Cristian-Mihail Prada(Jacksonville College), Steve Younkin(Mayo Clinic in Florida), M. Hutton(Mayo Clinic in Florida), John Hardy(University of South Florida)
Cited by 228Open Access
Abstract
We report a novel mutation in the amyloid precursor protein gene (APP I716V) which probably leads to familial early onset Alzheimer's disease with an onset age in the mid 50s. Cells transfected with cDNAs bearing this mutation produce more A beta 1-42(43) than those transfected with wild-type APP and this effect is additive with that of the previously reported APP V717I mutation thus providing a novel approach for further increasing A beta 1-42(43) in model systems.
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