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Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma
Yevgeniy Sazhnyev1,2,3, Akaash Venkat1,4, Jie J Zheng1,5
1Department of Ophthalmology, Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Genes
|February 24, 2024
Summary
Somatic mutations in the myocilin (MYOC) gene may contribute to glaucoma. Accumulation of these mutations in trabecular meshwork cells, potentially due to UV exposure, could lead to vision loss.
Area of Science:
- Ophthalmology
- Genetics
- Cell Biology
Background:
- Glaucoma is a leading cause of irreversible vision loss.
- Aging and family history are key risk factors for glaucoma.
- Myocilin (MYOC) gene mutations are linked to open-angle glaucoma, causing endoplasmic reticulum (ER) stress and trabecular meshwork (TM) cell death, leading to elevated intraocular pressure (IOP).
Purpose of the Study:
- To investigate the role of somatic mutations in the MYOC gene in glaucoma development.
- To explore the potential link between MYOC somatic mutations and pathogenic glaucoma variants.
Main Methods:
- Analysis of MYOC somatic mutations found in cancer.
- Comparison of somatic mutations with known pathogenic glaucoma variants.
- Consideration of TM cell susceptibility to somatic mutation accumulation.
Main Results:
- A significant overlap was observed between MYOC somatic cancer mutations and pathogenic glaucoma variants.
- Trabecular meshwork cells are prone to rapid somatic mutation accumulation, possibly due to UV exposure.
Conclusions:
- Somatic mutations in the MYOC gene are proposed as a significant contributor to glaucoma onset.
- This mechanism may explain glaucoma development in individuals without known germline MYOC mutations.
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