Signaling in Vascular Malformations with a TIE2, PIK3R1 or PIK3CA mutation

Details

Supervisors

Vikkula, Miikka ; Queisser, Angela

Faculty

Faculté de pharmacie et des sciences biomédicales

Degree label

Master [120] en sciences biomédicales, à finalité approfondie

Abstract

Vascular malformations are localised defects characterized by abnormal blood vessel development and function. The malformations we studied are caused either by activating mutations affecting the receptor tyrosine kinase TIE2 and/or the catalytic subunit α of phosphatidylinositol-4,5-bisphosphate 3-kinase (PIK3CA) in vascular ECs, or by loss-of-function mutations in the regulatory subunit 1 of phosphatidylinositol 3-kinase (PIK3R1), leading to a constitutive activation of the PI3K/AKT/mTOR pathway. Preliminary data from a RNAseq study in the host laboratory, and further characterization of patient-derived ECs indicated the activation of additional signaling pathways. These pathways could ultimately be connected and serve as novel targets for the treatment of patients with vascular anomalies.