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J Exp Med ; 217(10)2020 10 05.
Article in English | MEDLINE | ID: mdl-32648916

ABSTRACT

Cerebral cavernous malformations (CCMs) form following loss of the CCM protein complex in brain endothelial cells due to increased endothelial MEKK3 signaling and KLF2/4 transcription factor expression, but the downstream events that drive lesion formation remain undefined. Recent studies have revealed that CCM lesions expand by incorporating neighboring wild-type endothelial cells, indicative of a cell nonautonomous mechanism. Here we find that endothelial loss of ADAMTS5 reduced CCM formation in the neonatal mouse model. Conversely, endothelial gain of ADAMTS5 conferred early lesion genesis in the absence of increased KLF2/4 expression and synergized with KRIT1 loss of function to create large malformations. Lowering versican expression reduced CCM burden, indicating that versican is the relevant ADAMTS5 substrate and that lesion formation requires proteolysis but not loss of this extracellular matrix protein. These findings identify endothelial secretion of ADAMTS5 and cleavage of versican as downstream mechanisms of CCM pathogenesis and provide a basis for the participation of wild-type endothelial cells in lesion formation.


Subject(s)
ADAMTS5 Protein/metabolism , Hemangioma, Cavernous, Central Nervous System/etiology , Versicans/metabolism , ADAMTS1 Protein/metabolism , ADAMTS4 Protein/metabolism , Animals , Disease Models, Animal , Endothelium, Vascular/metabolism , Female , Genetic Association Studies , Hemangioma, Cavernous, Central Nervous System/embryology , Hemangioma, Cavernous, Central Nervous System/metabolism , Male , Mice , Mice, Inbred C57BL , Mice, Inbred DBA , Proteolysis , White Matter/metabolism
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