Von Hippel-Lindau Syndrome (VHL)
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Von Hippel-Lindau syndrome (VHL) is a rare genetic disorder that causes the growth of noncancerous tumors in various parts of the body. Our company stands at the forefront, armed with a distinguished research corps and cutting-edge technological advancements. Which can help you to illuminate the pathogenesis of VHL, catalyze the advancement of tailored therapeutic modalities, and march steadfastly towards pioneering breakthroughs in the intricate domain of VHL diagnostics and therapeutic strategies.
Von Hippel-Lindau syndrome (VHL) is a rare genetic disorder that affects around 1 in 35,000 individuals. One aspect of understanding VHL is the potential development of pheochromocytoma or renal cell carcinoma, which serves as a key indicator of the condition. Through meticulous research and observation, four distinct VHL phenotypes have been identified: type 1, type 2A, type 2B, and type 2C. These classifications provide valuable insights into the diverse manifestations of VHL.
VHL is caused by mutations in the VHL gene located on chromosome 3 (3p25-26), which is responsible for producing a protein that helps regulate cell growth. The exact mechanism by which VHL gene mutations lead to tumor formation is thought to involve dysregulation of hypoxia-inducible factors (HIFs), which control the response to low oxygen levels in cells (Fig.1). One crucial aspect of VHL research revolves around the regulation of hypoxia-induced mRNA expression of vascular endothelial growth factor (VEGF) by the VHL gene.
Fig.1 VHL protein functions: HIF independent and HIF dependent. (Glasker, S., et al., 2020)To identify genetic mutations in the VHL gene and accurately diagnose VHL, comprehensive genetic testing approaches such as single-gene testing, multigene panel, and advanced sequencing technologies like whole genome sequencing (WGS), whole exome sequencing (WES), and next-generation sequencing (NGS) are utilized. These methods help in pinpointing specific genetic abnormalities associated with VHL.
Small Molecule Drug Therapy
Some inhibitors work by targeting specific pathways, such as targeting HIF2 (belzutifan), EglN prolyl hydroxylase (daprodustat, vadadustat), and tyrosine kinase (sunitinib, pazopanib, and sorafenib, etc.), which can help to slow down the progression of VHL disease.
Monoclonal Antibody Therapy
Anti-VEGF monoclonal antibodies, such as bevacizumab, ranibizumab, and pegaptanib, are used in the therapeutic of VHL disease. Inhibiting the interaction between VEGF-A and its receptors (VEGFR1/2) prevents the formation of blood vessels within the tumors.
Gene Therapy
Gene therapy methods for VHL aim to replace or repair the faulty gene to restore its normal function. Some of the gene therapy approaches include gene editing, RNA interference (RNAi), viral vectors, or other delivery methods to evaluate the safety and efficacy of gene therapy in VHL.
Our company with cutting-edge technologies, and advancements in rare gastrointestinal disease diagnosis and therapeutic, including the development of animal models and therapeutic platforms, which can support your research of VHL.
Animal models of VHL are key to studying the genetic and molecular pathways involved in the disease and to test potential therapeutic strategies. With our advanced technology and expertise in genetic engineering, we can provide customized animal models tailored to your specific research need.
| Genetically Engineered Models | ||
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| Genetic engineering techniques, transgenic approaches, or viral vector delivery can be used to introduce targeted mutations in the VHL gene in animals like mice, zebrafish, and rats to study the disease and potential therapeutic interventions. | ||
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| Xenograft Models | ||
| Xenograft models involve the transplantation of human VHL-associated tumor cells into immunodeficient mice. These models allow researchers to study the growth and behavior of human VHL-associated tumors in a controlled environment. | ||
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| Optional Species | Mice, Rats, Zebrafish, Others | |
These models can be used to test the efficacy of new drugs or gene therapies for VHL and to support pharmacokinetics analysis and drug safety evaluation. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
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