Published: 2019-10-18 12:22 | Updated: 2019-10-18 12:59

New top publication in PNAS from OnkPat

In this study, researchers from the department of Oncology-Pathology (Monica Nistér, Catharina Larsson, Adam Stenman and Christofer Juhlin together with colleagues from Karolinska Institutet, Great Britain and USA, including this year's Nobel prize winner Dr. WG Kaelin Jr described a new mechanism regarding how certain mutations in the tumor suppressor gene von Hippel-Lindau (VHL) leads to increased risk for development of pheochromocytoma and paraganglioma.

In this study it was discovered that the VHL-protein stabilises another protein named BIM-EL which in turn can inhibit cell growth. The researchers could demonstrate how mutated VHL-protein did not manage to stabilise BIM-EL, which lead to less cell death and made the tumors less sensitive to chemotherapy. The findings implies a better understanding of the connection between mutations in VHL and tumor development, in addition to importance for how to treat VHL-mutated pheochromocytoma and paraganglioma in the future. The study is published in PNAS.

Publication

EglN3 hydroxylase stabilizes BIM-EL linking VHL type 2C mutations to pheochromocytoma pathogenesis and chemotherapy resistance.
Li S, Rodriguez J, Li W, Bullova P, Fell SM, Surova O, et al
Proc. Natl. Acad. Sci. U.S.A. 2019 Aug;116(34):16997-17006