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RASA1 mutations in vascular malformations

Capillary malformation-arteriovenous malformation (CM-AVM) results from inactivating mutations in the gene encoding RAS p21 protein activator (RASA1); however, RASA1 is expressed in multiple tissues, and it is not clear how RASA1 mutations promote vascular dysfunction. Joanne Chan and colleagues determined that loss of either the receptor EPHB4, a regulator of vascular development, or RASA1 induces similar abnormalities in blood vessel formation and TORC1 hyperactivation in zebrafish models. Increased mTORC1 activation was detected in samples from patients with RASA1-dependent AVM, suggesting that currently approved therapeutics targeting mTORC1 could potentially be used to treat CM-AVM.