Pathological activity of familial Alzheimer's disease-associated mutant presenilin can be executed by six different gamma-secretase complexes

Neurobiol Dis. 2007 Jul;27(1):102-7. doi: 10.1016/j.nbd.2007.04.011. Epub 2007 May 6.

Abstract

gamma-Secretase is a protease complex, which catalyzes the final of two subsequent cleavages of the beta-amyloid precursor protein (APP) to release the amyloid-beta peptide (Abeta) implicated in Alzheimer's disease (AD) pathogenesis. In human cells, six gamma-secretase complexes exist, which are composed of either presenilin (PS) 1 or 2, the catalytic subunit, nicastrin, PEN-2, and either APH-1a (as S or L splice variants) or its homolog APH-1b. It is not known whether and how different APH-1 species contribute to the pathogenic activity of gamma-secretase complexes with familial AD (FAD)-associated mutant PS. Here we show that all known gamma-secretase complexes are active in APP processing and that all combinations of APH-1 variants with either FAD mutant PS1 or PS2 support pathogenic Abeta(42) production. Since our data suggest that pathogenic gamma-secretase activity cannot be attributed to a discrete gamma-secretase complex, we propose that all gamma-secretase complexes have to be explored and evaluated for their potential as AD drug target.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / genetics*
  • Alzheimer Disease / metabolism
  • Alzheimer Disease / pathology*
  • Amyloid Precursor Protein Secretases / metabolism*
  • Amyloid beta-Peptides / biosynthesis
  • Amyloid beta-Peptides / metabolism
  • Amyloid beta-Protein Precursor / metabolism
  • Cell Line
  • Humans
  • Kidney / cytology
  • Multienzyme Complexes / metabolism
  • Peptide Fragments / biosynthesis
  • Peptide Fragments / metabolism
  • Presenilin-1 / genetics*
  • Presenilin-1 / metabolism
  • Presenilin-2 / genetics*
  • Presenilin-2 / metabolism
  • RNA Splicing

Substances

  • Amyloid beta-Peptides
  • Amyloid beta-Protein Precursor
  • Multienzyme Complexes
  • PSEN1 protein, human
  • PSEN2 protein, human
  • Peptide Fragments
  • Presenilin-1
  • Presenilin-2
  • amyloid beta-protein (1-42)
  • Amyloid Precursor Protein Secretases