The endothelial landscape and its role in von Hippel-Lindau disease

We report transcriptome analysis (RNAseq) of VHL-derived BOECs, further supported by in vitro assays, shows that these cells are in disadvantage, as evidenced by loss of cell adhesion capacity, angiogenesis defects, as well as an immune response and oxidative metabolic gene downregulation, that induces oxidative stress. These results would suggest that the endothelium of VHL patients is functionally compromised and more susceptible to tumor development. These findings contribute to shedding light on the vascular landscape of VHL patients preceding the second hit mutation in VHL gene. Overall design: Expression level comparison between transcriptomes of blood outgrowth endothelial cells (BOEC) derived from 5 patients harbouring VHL mutations in comparison with 2 control patients. Control samples are depicted as C# and VHL-harbouring mutation samples are V#, where # is the number.