Secretory pathway of beta/A4 amyloid protein precursor in familial Alzheimer's disease with Val717 to Ile mutation

Neurosci Lett. 1992 Sep 14;144(1-2):43-5. doi: 10.1016/0304-3940(92)90711-f.

Abstract

To determine whether the secretory pathway of beta/A4 amyloid protein precursor (APP) was altered in familial Alzheimer's disease (FAD) with a mutation of Val717 to Ile, cerebrospinal fluid was studied by Western blotting. The ratio of the density of the bands labeled with the antibody against the amino-terminal part of beta/A4 protein to that with the antibody against amino-terminal part of beta/A4 protein to that with the antibody against amino-terminal part of APP was not decreased. The present result suggests that the secretory pathway is not altered by the mutation in such a way that amyloidogenic full-length beta/A4 protein is generated.

MeSH terms

  • Alzheimer Disease / cerebrospinal fluid
  • Alzheimer Disease / genetics
  • Alzheimer Disease / metabolism*
  • Amyloid beta-Protein Precursor / cerebrospinal fluid
  • Amyloid beta-Protein Precursor / metabolism*
  • Blotting, Western
  • Cells, Cultured
  • Humans
  • Isoleucine / metabolism*
  • Mutation
  • Nervous System Diseases / genetics
  • Nervous System Diseases / metabolism
  • Valine / metabolism*

Substances

  • Amyloid beta-Protein Precursor
  • Isoleucine
  • Valine