Related Experiment Video
Updated: Jun 10, 2026
07:26
Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis
Published on: January 31, 2025
Von Hippel Lindau syndrome
Jenny J Kim1, Brian I Rini, Donna E Hansel
1Cleveland Clinic, Taussig Cancer Institute, Celveland, Ohio 44195, USA.
Advances in Experimental Medicine and Biology
|August 7, 2010
Summary
Von Hippel-Lindau syndrome (VHLS) is a genetic disorder causing tumors due to VHL gene mutations. Early detection and treatment have significantly improved patient outcomes and prognosis.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Von Hippel-Lindau syndrome (VHLS) is an inherited condition linked to the VHL gene.
- It predisposes individuals to various benign and malignant hyper-vascular tumors.
- The syndrome affects approximately 1 in 36,000 live births with high penetrance.
Purpose of the Study:
- To review the current understanding of VHLS.
- To highlight advancements in screening, intervention, and treatment.
- To discuss emerging molecular pathways and novel therapies.
Main Methods:
- Literature review of VHLS natural history and biology.
- Analysis of the impact of screening protocols and early interventions.
- Overview of ongoing clinical trials for novel treatment protocols.
Main Results:
- Improved understanding has led to better screening and early intervention strategies.
- Treatment advancements have substantially improved the prognosis for VHLS patients.
- Novel molecular pathways and therapeutic targets are being identified.
Conclusions:
- VHLS management has evolved, significantly enhancing patient outlook.
- Ongoing research into molecular mechanisms promises further therapeutic breakthroughs.
- The VHL gene's role in tumorigenesis is a key focus for future treatments.
Related Concept Videos
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
02:33Hedgehog Signaling Pathway
The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
01:42Phosphoinositides and PIPs
Phosphoinositides are a group of phospholipids containing a glycerol backbone with two fatty acid chains and a phosphate attached to a myoinositol sugar ring. The inositol head group extends into the cytoplasm, where it is modified by adding phosphate groups to form phosphatidylinositol phosphates or PIPs.
Different phosphoinositides are synthesized and recruited on the cytosolic face of the plasma membrane. The localization of specific phosphoinositides concentrated in separate membrane...
Different phosphoinositides are synthesized and recruited on the cytosolic face of the plasma membrane. The localization of specific phosphoinositides concentrated in separate membrane...
01:22iPS Cell Differentiation
The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.