The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

J Clin Invest. 2000 Mar;105(5):597-605. doi: 10.1172/JCI8047.

Abstract

Mutations in Notch3 cause CADASIL (cerebral autosomal dominant adult onset arteriopathy), which leads to stroke and dementia in humans. CADASIL arteriopathy is characterized by major alterations of vascular smooth muscle cells and the presence of specific granular osmiophilic deposits. Patients carry highly stereotyped mutations that lead to an odd number of cysteine residues within EGF-like repeats of the Notch3 receptor extracellular domain. Such mutations may alter the processing or the trafficking of this receptor, or may favor its oligomerization. In this study, we examined the Notch3 expression pattern in normal tissues and investigated the consequences of mutations on Notch3 expression in transfected cells and CADASIL brains. In normal tissues, Notch3 expression is restricted to vascular smooth muscle cells. Notch3 undergoes a proteolytic cleavage leading to a 210-kDa extracellular fragment and a 97-kDa intracellular fragment. In CADASIL brains, we found evidence of a dramatic and selective accumulation of the 210-kDa Notch3 cleavage product. Notch3 accumulates at the cytoplasmic membrane of vascular smooth muscle cells, in close vicinity to but not within the granular osmiophilic material. These results strongly suggest that CADASIL mutations specifically impair the clearance of the Notch3 ectodomain, but not the cytosolic domain, from the cell surface.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Brain / blood supply
  • Brain / pathology*
  • Cells, Cultured
  • Dementia, Multi-Infarct / genetics*
  • Dementia, Multi-Infarct / pathology
  • Endopeptidases / metabolism
  • Gene Expression
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization
  • Microscopy, Immunoelectron
  • Middle Aged
  • Muscle, Smooth, Vascular / metabolism
  • Mutation
  • Peptide Fragments / analysis
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism*
  • Receptor, Notch3
  • Receptors, Cell Surface / genetics
  • Receptors, Cell Surface / metabolism*
  • Receptors, Notch
  • Transfection

Substances

  • NOTCH3 protein, human
  • Peptide Fragments
  • Proto-Oncogene Proteins
  • Receptor, Notch3
  • Receptors, Cell Surface
  • Receptors, Notch
  • Endopeptidases