Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase

Mol Cell Neurosci. 2009 Jun;41(2):166-74. doi: 10.1016/j.mcn.2009.02.008. Epub 2009 Mar 9.

Abstract

Alzheimer's disease is characterized by accumulation of toxic beta-amyloid (Abeta) in the brain and neuronal death. Several mutations in presenilin (PS1) and beta-amyloid precursor protein (APP) associate with an increased Abeta(42/40) ratio. Abeta(42), a highly fibrillogenic species, is believed to drive Abeta aggregation. Factors shifting gamma-secretase cleavage of APP to produce Abeta(42) are unclear. We investigate the molecular mechanism underlying altered Abeta(42/40) ratios associated with APP mutations at codon 716 and 717. Using FRET-based fluorescence lifetime imaging to monitor APP-PS1 interactions, we show that I716F and V717I APP mutations increase the proportion of interacting molecules earlier in the secretory pathway, resulting in an increase in Abeta generation. A PS1 conformation assay reveals that, in the presence of mutant APP, PS1 adopts a conformation reminiscent of FAD-associated PS1 mutations, thus influencing APP binding to PS1/gamma-secretase. Mutant APP affects both intracellular location and efficiency of APP-PS1 interactions, thereby changing the Abeta(42/40) ratio.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / genetics
  • Alzheimer Disease / metabolism
  • Alzheimer Disease / pathology
  • Amyloid Precursor Protein Secretases / genetics
  • Amyloid Precursor Protein Secretases / metabolism*
  • Amyloid beta-Protein Precursor* / genetics
  • Amyloid beta-Protein Precursor* / metabolism
  • Animals
  • CHO Cells
  • Cricetinae
  • Cricetulus
  • Fluorescence Resonance Energy Transfer
  • Humans
  • Mutation*
  • Presenilins / chemistry
  • Presenilins / genetics
  • Presenilins / metabolism*
  • Protein Conformation
  • Protein Transport / physiology

Substances

  • Amyloid beta-Protein Precursor
  • Presenilins
  • Amyloid Precursor Protein Secretases