Endothelial Rbpj deletion normalizes Notch4-induced brain arteriovenous malformation in mice

Abstract

Upregulation of Notch signaling is associated with brain arteriovenous malformation (bAVM), a disease that lacks pharmacological treatments. Tetracycline (tet)-regulatable endothelial expression of constitutively active Notch4 (Notch4*tetEC) from birth induced bAVMs in 100% of mice by P16. To test whether targeting downstream signaling, while sustaining the causal Notch4*tetEC expression, induces AVM normalization, we deleted Rbpj, a mediator of Notch signaling, in endothelium from P16, by combining tet-repressible Notch4*tetEC with tamoxifen-inducible Rbpj deletion. Established pathologies, including AV connection diameter, AV shunting, vessel tortuosity, intracerebral hemorrhage, tissue hypoxia, life expectancy, and arterial marker expression were improved, compared with Notch4*tetEC mice without Rbpj deletion. Similarly, Rbpj deletion from P21 induced advanced bAVM regression. After complete AVM normalization induced by repression of Notch4*tetEC, virtually no bAVM relapsed, despite Notch4*tetEC re-expression in adults. Thus, inhibition of endothelial Rbpj halted Notch4*tetEC bAVM progression, normalized bAVM abnormalities, and restored microcirculation, providing proof of concept for targeting a downstream mediator to treat AVM pathologies despite a sustained causal molecular lesion.

Document Details

Document Type
Pub Defense Publication
Publication Date
Nov 28, 2022
Source ID
10.1084/jem.20211390

Entities

People

  • Andrew W. Bollen
  • Corinne M. Nielsen
  • Kunal P. Raygor
  • Rong A. Wang
  • Shaoxun Wang
  • Xuetao Zhang

Organizations

  • American Heart Association
  • Congressionally Directed Medical Research Programs
  • Frank A. Campini Foundation
  • National Institutes of Health
  • Tobacco-Related Disease Research Program
  • University of California, San Francisco

Tags

Fields of Study

  • Biology
  • Medicine

Readers

  • Cardiovascular Physiology
  • Molecular Biology and Genetics
  • Molecular and Cellular Biology