Cerebral cavernous malformations (CCM) induce recurring spells of cerebral hemorrhage and can cause focal neurological deficits and seizures. These malformations result from mutations in any of three known CCM genes. The role of CCM proteins in cerebral development and pathology is not well understood. Here, Gwénola Boulday and colleagues demonstrate the importance of CCM gene expression within endothelial cells (ECs) for proper vascular development. Deletion of CCM2 in neuroglia precursor cells had no effect, but CCM2 deletion in ECs severely impaired angiogenesis and vascular morphology, leading to embryonic death. This study highlights the complex function of CCM2 and the importance of studying ECs in CCM pathogenesis.
2009
