The role of VHL in the development of von Hippel-Lindau disease and erythrocytosis

Hudler, Petra (author), Urbančič, Mojca (author)

Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem neoplastic syndrome stemming from germline disease-associated variants of the VHL tumor suppressor gene on chromosome 3. VHL is involved, through the EPO-VHL-HIF signaling axis, in oxygen sensing and adaptive response to hypoxia, as well as in numerous HIF-independent pathways. The diverse roles of VHL confirm its implication in several crucial cellular processes. VHL variations have been associated with the development of VHL disease and erythrocytosis. The association between genotypes and phenotypes still remains ambiguous for the majority of mutations. It appears that there is a distinction between erythrocytosis-causing VHL variations and VHL variations causing VHL disease with tumor development. Understanding the pathogenic effects of VHL variants might better predict the prognosis and optimize management of the patient.

• Language: English
• Keywords: Chuvash polycythemia, genetic variation, von Hippel-Lindau disease, VHL, VHL disease, erythrocytosis, pheochromocytoma, renal cell carcinoma, retinal hemangioblastoma, hemangioblastoma
• Work type: Article
• Typology: 1.02 - Review Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2022
• Number of pages: 27 str.
• Numbering: Vol. 13, iss. 2, art. 362
• PID: 20.500.12556/RUL-137290
• UDC: 617.7
• ISSN on article: 2073-4425
• DOI: 10.3390/genes13020362
• COBISS.SI-ID: 98012931
• Publication date in RUL: 09.06.2022

Record is a part of a journal

• Title: Genes
• Shortened title: Genes
• Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
• ISSN: 2073-4425
• COBISS.SI-ID: 523100185

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
• Licensing start date: 17.02.2022

Secondary language

• Language: Slovenian
• Keywords: čuvaška policitemija, genetske variacije, von Hippel-Lindaujeva bolezen

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: L3-9279
• Name: Genetska osnova eritrocitoz v Sloveniji