This web page was produced as an assignment for Genetics 564, an undergraduate capstone course at UW-Madison.
What is Von Hippel-Lindau Disease?
Von Hippel-Lindau Disease is a rare genetic disease that is characterized by tumors and cysts that grow throughout the body. Hemangioblastomas, a specific kind of tumor, can form in brain, retinas, lungs, kidneys pancreas and spinal cord while cysts may develop pancreas and kidneys . Although most of these tumors are benign, they require close monitoring to prevent spreading to other organs .
Renal cell carcinoma is the leading cause of death in VHL patients. This is when malignant cells form in the tubules of the kidney.
How can someone get VHL?
What is the VHL gene?
VHL is a tumor suppressor gene that regulates the amount of hypoxia inducible factors (HIFs) in the body through its E3 ubiquitin ligase activity. When it is functioning properly, it prevents the formation of tumors in the body. VHL regulates the amount of HIF-α subunit by enhancing the amount that is ubiquitylated, which results in degradation of the HIF-α protein . Without normal levels of VHL, HIF-α can accumulate and interact with HIF-β to act as a transcription factor. The result of the increase in HIF expression results in hypoxic conditions, which provides conditions for tumor growth .
- Von Hippel-Lindau Syndrome: Cancer.Net. <http://www.cancer.net/cancer-types/von-hippel-lindau-syndrome
- Von Hippel-Lindau Syndrome: Genetics Home Reference. Retrieved from < https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome# >
- What is VHL?: VHL Alliance. < https://vhl.org/ >
- Maher, E. R., Neumann, H. P., & Richard, S. (2011). von Hippel–Lindau disease: A clinical and scientific review. European Journal of Human Genetics, 19(6), 617–623. http://doi.org/10.1038/ejhg.2010.175
- Malec, V., Coulson, J. M., Urbé, S., & Clague, M. J. (2015). Combined Analyses of the VHL and Hypoxia Signaling Axes in an Isogenic Pairing of Renal Clear Cell Carcinoma Cells. Journal of Proteome Research 2015 14 (12), 5263-5272. DOI: 10.1021/acs.jproteome.5b00692
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