The onset of PI3K-related vascular malformations occurs during angiogenesis

ABSTRACT: Low-flow vascular malformations are congenital overgrowths composed of abnormal blood vessels potentially causing pain, bleeding, and obstruction of different organs. These diseases are caused by oncogenic mutations in the endothelium which result in overactivation of the PI3K/AKT pathway. Lack of robust in vivo preclinical data has prevented the development and translation into clinical trials of specific molecular therapies for these diseases. Here, we demonstrate that the Pik3caH1047R activating mutation in endothelial cells triggers a transcriptome rewiring that leads to enhanced cell proliferation. We describe a new reproducible preclinical in vivo model of PI3K-driven vascular malformations using the postnatal mouse retina. We show that active angiogenesis is required for the pathoge

SUBMITTER: Dr. Piotr Kobialka 

PROVIDER: S-SCDT-EMM-2021-15619 | biostudies-other |

REPOSITORIES: biostudies-other