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Myocilin misfolding and glaucoma: A 20-year update
Emily G Saccuzzo1, Hannah A Youngblood1, Raquel L Lieberman1
1School of Chemistry & Biochemistry, Georgia Institute of Technology, 901 Atlantic Dr. NW, Atlanta, GA, 30332-0400, USA.
Progress in Retinal and Eye Research
|May 22, 2023
Summary
Mutations in the MYOC gene cause primary open angle glaucoma (POAG) by forming toxic myocilin protein aggregates in the eye. Understanding these aggregates is key to developing new glaucoma treatments.
Area of Science:
- Ophthalmology
- Molecular Biology
- Genetics
Background:
- Mutations in the MYOC gene are responsible for approximately 5% of primary open angle glaucoma (POAG) cases.
- MYOC encodes the myocilin protein, with most disease-causing mutations located in its olfactomedin (OLF) domain.
Purpose of the Study:
- To enhance the molecular understanding of myocilin-associated glaucoma.
- To detail the molecular structure and aggregation of mutant myocilin.
Main Methods:
- Review of laboratory work over 15 years.
- Analysis of myocilin structure and aggregate formation.
Main Results:
- Mutant myocilin aggregates intracellularly instead of being secreted, leading to cell stress and death in the trabecular meshwork.
- This process elevates intraocular pressure, causing glaucoma and retinal degeneration.
Conclusions:
- Further research is needed to predict glaucoma phenotype from genotype and elucidate myocilin's native function.
- Understanding myocilin aggregation opens translational research avenues for glaucoma treatment.
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