Caracterización de la mutación GnaqR183Q en células endoteliales de ratón


Carol Castellvell, Martina


Vascular anomalies are considered rare diseases mainly divided into two groups: vascular tumors and vascular malformations. This last one, is divided in different types depending on the vessel affected (lymphatic, venous, capillaries). Recently it has been found that the capillary malformation and the Sturge-Weber syndrome are caused by a mutation in the GNAQ gene (GNAQR183Q) affecting the endothelial compartment, thus, resulting into an increased signaling of the downstream effectors of the protein. Here, using mouse endothelial cells from mice carrying the mutation, we aim to characterize the effect on endothelial cells using immunoblotting techniques, but also, we use the retina mouse model in order to assess the angiogenesis.



Guerra Rebollo, Marta
Castillo Díez, Sandra


IQS SE - Undergraduate Program in Biotechnology