Increased Abeta42(43) from cell lines expressing presenilin 1 mutations

Ann Neurol. 1998 Feb;43(2):256-8. doi: 10.1002/ana.410430217.


Mutations in the presenilin 1 (PS1) gene on chromosome 14 are a major cause of autosomal dominant, early-onset Alzheimer's disease. Here, we show that transfecting cells with several mutant, but not wild-type, PS1 cDNAs alters the processing of the amyloid precursor protein (APP) such that more Abeta42(43) is produced, confirming and extending several recent reports. The most effective mutation in this regard was the exon 9 splice-out mutation (delta9). The correlation between the size of the effect on APP processing and the age of onset of disease assessed in families with the mutations was not informative, and the possible reasons for this are discussed.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Age of Onset
  • Alzheimer Disease / genetics
  • Analysis of Variance
  • Blotting, Western
  • Cell Line
  • Chromosomes, Human, Pair 14*
  • Clone Cells
  • DNA, Complementary / analysis
  • Gene Expression Regulation
  • Humans
  • Kidney / embryology
  • Membrane Proteins / genetics*
  • Point Mutation*
  • Presenilin-1
  • Transfection


  • DNA, Complementary
  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1