Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes

Acta Neurol Scand Suppl. 2000:176:6-11. doi: 10.1034/j.1600-0404.2000.00301.x.

Abstract

Presenilin (PS1 and PS2) holoproteins are transiently incorporated into low molecular weight (MW) complexes. During subsequent incorporation into a higher MW complex, they undergo endoproteolysis to generate stable N- and C-terminal fragments (NTF/CTF). Mutation of either of two conserved aspartate residues in transmembrane domains inhibits both presenilin-endoproteolysis and the proteolytic processing of APP and Notch. We show that aspartate-mutant holoprotein presenilins are not incorporated into the high molecular weight, NTF/CTF-containing complexes. Aspartate-mutant presenilin holoproteins also preclude entry of endogenous wild-type PS1/PS2 into the high molecular weight complexes, but do not affect the incorporation of wild-type holoproteins into lower molecular weight holoprotein complexes. These data suggest that the loss-of-function aspartate-mutants cause altered PS complex maturation, and argue that the functional presenilin moieties are contained in the high molecular weight presenilin NTF/CTF-containing complexes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / physiopathology*
  • Amyloid Precursor Protein Secretases
  • Amyloid beta-Peptides / metabolism
  • Animals
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / genetics
  • Aspartic Acid / metabolism*
  • Aspartic Acid Endopeptidases
  • Cell Culture Techniques
  • Cell Membrane
  • DNA, Complementary / genetics
  • Endopeptidases / metabolism
  • Gene Expression Regulation
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mice
  • Point Mutation*
  • Presenilin-1
  • Presenilin-2
  • Protein Conformation

Substances

  • Amyloid beta-Peptides
  • DNA, Complementary
  • Membrane Proteins
  • PSEN1 protein, human
  • PSEN2 protein, human
  • Presenilin-1
  • Presenilin-2
  • Aspartic Acid
  • Amyloid Precursor Protein Secretases
  • Endopeptidases
  • Aspartic Acid Endopeptidases
  • BACE1 protein, human
  • Bace1 protein, mouse