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Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis


A novel missense mutation, Leu723Pro, in the amyloid precursor protein (APP) gene was discovered in an early-onset Alzheimer's disease family. Expression of L723P mutant APP complementary DNA in CHO cells resulted in a 1.4- to 1.9-fold increased production of the 42(43)-amino acid length amyloid beta peptide compared with the wild-type sequence and was capable of causing apoptosis. The mutation is predicted to alter the luminal transmembrane length and helical arrangement of the APP molecule and thus affect the gamma-secretase cleavage site.

Type Journal
ISBN 0364-5134 (Print)
Authors Kwok, J. B.;Li, Q. X.;Hallupp, M.;Whyte, S.;Ames, D.;Beyreuther, K.;Masters, C. L.;Schofield, P. R. :
Published Date 2000-01-01
Published Volume 47
Published Issue 2
Published Pages 249-53
Status Published in-print
URL link to publisher's version