Relevant pathways and their targeted inhibitors (in red) for the EC

Schematic of relevant pathways and their targeted inhibitors (in red) for the EC. Stimuli trigger VEGFA to bind and autophosphorylate VEGFR2, triggering both the PI3k/AKT/mTOR and RAS/RAF/ERK pathways. Patients with HHT have germline mutations in the TGFB pathway that result in ALK1 activation by BMP9 and 10 ligands, which can trigger the TGFB canonical (SMAD 1/5/8) and non-canonical pathways (PI3K/AKT/mTOR). Patients with capillary malformation AVM syndrome harbour germline mutations in RASA1 and EPHB4, leading to the KRAS signaling pathway. Patients with sporadic AVMs harbour mostly KRAS mutations, alongside BRAF, MAP2K1, and RIT1. Activation of these pathways results in the expression of proteins important in angiogenesis, vascular migration, and maturity

Publication

Defining the Role of Oral Pathway Inhibitors as Targeted Therapeutics in Arteriovenous Malformation Care (2024) Ann Mansur, et al. Biomedicines. 2024 Jun;12(6). Figure: F1. Homo sapiens

Disease mentions