Identification and neuron specific expression of the S182/presenilin I protein in human and rodent brains

J Neurosci Res. 1996 Aug 1;45(3):308-20. doi: 10.1002/(SICI)1097-4547(19960801)45:3<308::AID-JNR13>3.0.CO;2-#.

Abstract

Many individuals with familial Alzheimer disease (FAD) have mutations in a gene termed S182 or presenilin I (PS-I). Currently, the PS-I gene product has not been identified and its function remains unknown. Here we report that affinity purified antibodies against the predicted amino acid sequence of the PS-I gene product detected in homogenates of human, mouse, and rat brains a single antigen of approximately 48 kDa. This antigen was also present in immortalized human and mouse neuronal cell cultures. Brain tissue fractionation showed that all PS-I antigen was found in the membrane fraction. In stained tissue sections of mouse central nervous system (CNS), PS-I antigen was found only in neurons throughout brain and spinal cord and was located within cell bodies, axons, and dendrites. Remarkably the relative partition among these three compartments varied dramatically. A striking feature of PS-I expression was its intense concentration in some (but not all) dendrites, at levels substantially above those in the parent perikarya. In most of the cerebrum, PS-I staining in axons was very weak or undetectable. By contrast, many axons in portions of the brainstem and in the spinal cord showed marked PS-I immunoreactivity. Similarly, staining of sections from human temporal cortex showed that PS-I was present mainly in neuronal cell bodies and dendrites. These data show that in the CNS, PS-I is expressed mainly in neurons and suggests that this protein may perform a neuron specific function. The pattern of PS-I expression in the CNS would suggest that the premature neurodegeneration associated with PS-I mutations involves a primary neuronal process rather than a secondary effect of PS-I produced in non-neuronal cells.

Publication types

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

MeSH terms

  • Animals
  • Blotting, Western
  • Brain / cytology
  • Brain Chemistry / physiology*
  • Cell Line
  • Escherichia coli / genetics
  • Escherichia coli / metabolism
  • Fluorescent Antibody Technique, Direct
  • Humans
  • Immunoenzyme Techniques
  • Membrane Proteins / biosynthesis*
  • Membrane Proteins / genetics
  • Mice
  • Nerve Degeneration / physiology
  • Neurons / metabolism*
  • Presenilin-1
  • Rats

Substances

  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1