The expression of late infantile neuronal ceroid lipofuscinosis (CLN2) gene product in human brains

Neurosci Lett. 1998 Nov 27;257(2):113-5. doi: 10.1016/s0304-3940(98)00787-3.

Abstract

We raised polyclonal antibodies against a gene product responsible for late infantile neuronal ceroid lipofuscinosis (CLN2). By Western blotting, all three antisera recognized the CLN2 protein at approximately 49 kDa in human brain homogenates. Immunohistochemistry using the antisera demonstrated the granular labelling in the cytoplasm of cerebral neurons and glial cells. The immunoreactivity on Western blots was absent from the brain of a patient with CLN2. Our results suggest the usefulness of these antibodies for the diagnosis of CLN2, which currently requires demonstration of characteristic ultrastructure by electron microscopy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Aminopeptidases
  • Blotting, Western
  • Brain / cytology
  • Brain / metabolism*
  • Cadaver
  • Cytoplasm / metabolism
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • Endopeptidases
  • Humans
  • Immunohistochemistry
  • Male
  • Neuroglia / metabolism
  • Neurons / metabolism
  • Peptide Hydrolases / metabolism*
  • Serine Proteases
  • Tripeptidyl-Peptidase 1

Substances

  • Tripeptidyl-Peptidase 1
  • Endopeptidases
  • Peptide Hydrolases
  • Serine Proteases
  • Aminopeptidases
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
  • TPP1 protein, human