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Cystatin a, a potential common link for mutant myocilin causative glaucoma
K David Kennedy1, S A AnithaChristy, Lakisha K Buie
1Department of Ophthalmology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, United States of America.
Plos One
|May 23, 2012
Summary
Mutations in Myocilin (MYOC) cause glaucoma by altering trabecular meshwork cell function. This study identifies cystatin A (CSTA) as a key factor, potentially serving as a biomarker and therapeutic target for MYOC-induced glaucoma.
Area of Science:
- Ophthalmology
- Molecular Biology
- Genetics
Background:
- Myocilin (MYOC) is a secreted glycoprotein in eye's trabecular meshwork.
- MYOC mutations are a known cause of glaucoma, leading to elevated intraocular pressure (IOP).
- Wild-type MYOC is cleaved by calpain II, a process inhibited by MYOC mutants.
Purpose of the Study:
- To investigate the molecular mechanisms by which MYOC mutants induce glaucoma.
- To identify specific genes and pathways affected by MYOC mutations in trabecular meshwork cells.
Main Methods:
- Adenoviral vectors expressing MYOC variants (Q368X, R342K, D380N, K423E) were used to overexpress them in human trabecular meshwork cells.
- Gene expression profiling was performed using Affymetrix U133Plus2 GeneChips.
- Candidate gene analysis and functional assays were conducted.
Main Results:
- MYOC mutants significantly affected the unfolded protein response (UPR) and altered expression of various genes related to trabecular meshwork physiology.
- Cystatin A (CSTA) was consistently induced by all MYOC mutants but not wild-type MYOC.
- Functional analysis showed CSTA reduces wild-type MYOC cleavage in trabecular meshwork cells.
Conclusions:
- MYOC mutants disrupt normal cellular processes in the trabecular meshwork, contributing to glaucoma pathogenesis.
- CSTA emerges as a potential therapeutic target and biomarker for MYOC-induced glaucoma.
- This research offers new molecular insights into MYOC-related glaucoma mechanisms.
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