Role of CCM1 loss-of-function-induced endothelial-to-mesenchymal transition in the development of cavernous malformations

Cerebral cavernous malformations (CCM) occur in two variants: sporadic and familial. Mutations in three genes-CCM1, CCM2, and CCM3-play a role in both subtypes, with mouse models showing the development of multiple cavernous malformations in animals with loss of function in any of these three genes. Identification of these genes has already allowed for improved screening of family members at risk for familial cavernous malformations, but deeper knowledge about the underlying physiology of these lesions could open up new avenues for treatment.