Related Experiment Video
Updated: Jul 9, 2026
06:07
RNA Isolation from Mouse Ocular Lens Epithelium and Fiber Cell Bulk Masses
Published on: October 10, 2025
Ocular clusterin expression in von Hippel-Lindau disease
Min Zhou1, Defen Shen, James E Head
1National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Molecular Vision
|December 15, 2007
Summary
Clusterin levels are decreased in ocular tumors associated with von Hippel-Lindau (VHL) disease. This suggests clusterin may play a role in VHL tumor suppression and could be a biomarker.
Area of Science:
- Ophthalmology
- Oncology
- Molecular Biology
Background:
- Clusterin is a glycoprotein with widespread mRNA expression, notably in von Hippel-Lindau (VHL) disease target organs.
- Reduced clusterin secretion is observed in VHL disease-associated renal cell carcinoma.
- Ocular manifestations of VHL disease, such as retinal hemangioblastomas, warrant investigation for clusterin's role.
Purpose of the Study:
- To investigate ocular clusterin expression in patients with VHL disease.
- To determine if clusterin levels are altered in VHL disease-related ocular tumors.
Main Methods:
- Retrospective case series involving nine eyes with VHL disease-associated retinal hemangioblastoma/hemangioma.
- Inclusion of one eye from a patient with VHL disease and CNS hemangioblastomas, one optic nerve hemangioblastoma, and three normal control eyes.
- Immunohistochemistry and quantitative real-time PCR (microdissection) to assess clusterin expression and mRNA levels in VHL-associated ocular tumors versus normal tissue.
Main Results:
- Retinal and optic nerve hemangioblastomas showed a marked decrease in clusterin immunoreactivity compared to normal retinal tissue.
- Vascular and glial components within the tumors exhibited clusterin reactivity similar to normal retina.
- Quantitative real-time PCR confirmed significantly lower clusterin mRNA levels in VHL-associated ocular tumors.
Conclusions:
- Clusterin expression is downregulated in ocular VHL-associated hemangioblastomas.
- Clusterin may be involved in tumor suppression mediated by the VHL gene product (pVHL).
- Clusterin presents potential as a novel biomarker for retinal hemangioblastomas in VHL disease.
Related Concept Videos
01:45Vesicular Tubular Clusters
After budding out from the ER membrane, some COPII vesicles lose their coat and fuse with one another to form larger vesicles and interconnected tubules called vesicular tubular clusters or VTCs. These clusters constitute a compartment at the ER-Golgi interface known as ERGIC (Endoplasmic Reticulum Golgi Intermediate Compartment). The ERGIC is a mobile membrane-bound cargo transport system that sorts proteins secreted from ER and delivers them to the Golgi.
With the help of motor proteins such...
With the help of motor proteins such...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...