Loss of the transcription factor RBPJ induces disease-promoting properties in brain pericytes

Nat Commun. 2019 Jun 27;10(1):2817. doi: 10.1038/s41467-019-10643-w.

Abstract

Sufficient vascular supply is indispensable for brain development and function, whereas dysfunctional blood vessels are associated with human diseases such as vascular malformations, stroke or neurodegeneration. Pericytes are capillary-associated mesenchymal cells that limit vascular permeability and protect the brain by preserving blood-brain barrier integrity. Loss of pericytes has been linked to neurodegenerative changes in genetically modified mice. Here, we report that postnatal inactivation of the Rbpj gene, encoding the transcription factor RBPJ, leads to alteration of cell identity markers in brain pericytes, increases local TGFβ signalling, and triggers profound changes in endothelial behaviour. These changes, which are not mimicked by pericyte ablation, imperil vascular stability and induce the acquisition of pathological landmarks associated with cerebral cavernous malformations. In adult mice, loss of Rbpj results in bigger stroke lesions upon ischemic insult. We propose that brain pericytes can acquire deleterious properties that actively enhance vascular lesion formation and promote pathogenic processes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blood-Brain Barrier / metabolism
  • Brain / cytology
  • Brain / metabolism*
  • Disease Progression
  • Female
  • Hemangioma, Cavernous, Central Nervous System / genetics
  • Hemangioma, Cavernous, Central Nervous System / metabolism*
  • Hemangioma, Cavernous, Central Nervous System / pathology
  • Humans
  • Immunoglobulin J Recombination Signal Sequence-Binding Protein / deficiency*
  • Immunoglobulin J Recombination Signal Sequence-Binding Protein / genetics
  • Male
  • Mice, Knockout
  • Pericytes / metabolism*

Substances

  • Immunoglobulin J Recombination Signal Sequence-Binding Protein
  • Rbpj protein, mouse