Altered amyloid beta-protein precursor processing in brains of patients with neuronal ceroid lipofuscinosis

Neurosci Lett. 1990 Nov 27;120(1):94-6. doi: 10.1016/0304-3940(90)90176-a.

Abstract

Our previous study disclosed strong immunostaining of brain tissue in neuronal ceroid lipofuscinosis (NCL) with antibodies against amyloid beta-protein and the presence of 31-kDa polypeptide in the storage material. In the present study, we investigated the immunoreactivity of the NCL brain tissue with anti-serum (anti-GID) raised against a synthetic peptide, based on the amyloid beta-protein precursor, with the 175-186 amino acid sequence. Immunocytochemistry was performed on autopsy brain material collected from 15 NCL cases, and from 8 age-matched normal controls. The results showed strong immunoreactivity of nerve cells in the NCL cases, which according to densitometry was 5 times more intense than in the control group (P less than 0.0001 by Student's t-test). Western blot analysis revealed that in protein fractions of NCL brain homogenates anti-GID recognized the protein band of 35 kDa. Thus our present and previously performed studies supplied for the first time data pointing to abnormal processing of amyloid beta-protein precursor in NCL. Moreover, the accumulation of both 31- and 35-kDa polypeptides that was demonstrated provides further support for postulated defective protein metabolism in this disorder.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amyloid beta-Peptides / analysis*
  • Amyloid beta-Peptides / metabolism
  • Amyloid beta-Protein Precursor
  • Autopsy
  • Axons / metabolism
  • Axons / ultrastructure
  • Brain / metabolism
  • Brain / pathology*
  • Cerebral Cortex / pathology
  • Humans
  • Immunoenzyme Techniques
  • Neuronal Ceroid-Lipofuscinoses / metabolism
  • Neuronal Ceroid-Lipofuscinoses / pathology*
  • Neurons / metabolism
  • Neurons / pathology*
  • Protease Inhibitors / analysis*
  • Protein Precursors / analysis*
  • Protein Precursors / metabolism
  • Reference Values

Substances

  • Amyloid beta-Peptides
  • Amyloid beta-Protein Precursor
  • Protease Inhibitors
  • Protein Precursors