Genetic background regulates beta-amyloid precursor protein processing and beta-amyloid deposition in the mouse

Hum Mol Genet. 2003 Nov 15;12(22):2949-56. doi: 10.1093/hmg/ddg322. Epub 2003 Sep 23.

Abstract

Alzheimer's disease (AD) is a multigenic neurodegenerative disorder characterized by distinct neuropathological hallmarks including deposits of the beta-amyloid (A beta) peptide. A beta is a 39- to 43-amino acid peptide derived from the proteolytic processing of the amyloid precursor protein (APP). While increasing evidence suggests that altered APP processing and A beta metabolism is a common feature of AD, the relationship between the levels of A beta and various APP products and the onset of AD remains unclear. We have undertaken a screen to characterize genetic factors that modify APP processing, A beta metabolism and A beta deposition in a genomic-based yeast artificial chromosome (YAC) transgenic mouse model of AD. A mutant human APP YAC transgene was transferred to three inbred mouse strains. Despite similar levels of holo-APP expression in the congenic strains, the levels of APP C-terminal fragments as well as brain and plasma A beta in young animals varied by genetic background. Furthermore, we demonstrate that age-dependent A beta deposition in the APP YAC transgenic model is dramatically altered depending on the congenic strain examined. These studies demonstrate that APP processing, A beta metabolism and A beta deposition are regulated by genetic background and that analysis of these phenotypes in mice should provide new insights into the factors that regulate AD pathogenesis.

Publication types

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

MeSH terms

  • Alzheimer Disease / metabolism
  • Alzheimer Disease / pathology
  • Amyloid beta-Peptides / genetics
  • Amyloid beta-Peptides / metabolism*
  • Amyloid beta-Protein Precursor / genetics*
  • Amyloid beta-Protein Precursor / metabolism
  • Animals
  • Antibodies, Monoclonal / metabolism
  • Blotting, Western
  • Brain / metabolism
  • Brain / pathology
  • Chromosomes, Artificial, Bacterial
  • Enzyme-Linked Immunosorbent Assay
  • Gene Expression Regulation
  • Genetic Variation
  • Immunohistochemistry
  • Mass Spectrometry
  • Mice
  • Mice, Transgenic
  • Precipitin Tests
  • Protein Processing, Post-Translational*
  • Species Specificity
  • Transgenes

Substances

  • Amyloid beta-Peptides
  • Amyloid beta-Protein Precursor
  • Antibodies, Monoclonal