What is the genetic mechanism for Von Hippel-Lindau syndrome?

The VHL tumor suppressor proteinespecially targets hypoxia-inducible factor-1, but also several other proteins potentially involved in tumorigenesis, such as matrix metalloproteinases, MMP inhibitors, and atypical protein kinase C. Through proteasomal degradation, the VHL protein regulates the levels of the above-mentioned proteins within the cell. HIF-1 is involved in erythropoiesis through its ability to induce transcription of mRNA coding for erythropoietin. Furthermore, it regulates several growth factors, such as vascular endothelial growth factor, platelet-derived growth factor-beta, and transforming growth factor-alpha

Galan, S R, and P H HKann. “Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma.” Clinical endocrinology 78.2 (2013):165-175

Von hippel–lindau syndrome is an inherited, autosomal dominant syndrome, manifested by a variety of benign and malignant tumors, which affect one in 36 000 individuals. The spectrum of VHL-associated tumors includes hemangioblastomas of the brain and spine, retinal angiomas, clear-cell renal cell carcinomas, endolymphatic sac tumors of the middle ear, serous cystadenomas and neuroendocrine tumors of the pancreas, papillary cystadenomas of the epididymis and broad ligament, as well as PCCs

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