Exploring Epigenetic Modifications as Potential Biomarkers and Therapeutic Targets in Glaucoma

Author:

Tonti Emanuele1,Dell’Omo Roberto2ORCID,Filippelli Mariaelena2ORCID,Spadea Leopoldo1ORCID,Salati Carlo3,Gagliano Caterina45ORCID,Musa Mutali6ORCID,Zeppieri Marco3ORCID

Affiliation:

1. Eye Clinic, Policlinico Umberto I University Hospital, 00142 Rome, Italy

2. Department of Medicine and Health Sciences “Vincenzo Tiberio”, University of Molise, Via Francesco De Sanctis 1, 86100 Campobasso, Italy

3. Department of Ophthalmology, University Hospital of Udine, 33100 Udine, Italy

4. Faculty of Medicine and Surgery, University of Enna “Kore”, Piazza dell’Università, 94100 Enna, Italy

5. Eye Clinic, Catania University, San Marco Hospital, Viale Carlo Azeglio Ciampi, 95121 Catania, Italy

6. Department of Optometry, University of Benin, Benin City 300238, Nigeria

Abstract

Glaucoma, a complex and multifactorial neurodegenerative disorder, is a leading cause of irreversible blindness worldwide. Despite significant advancements in our understanding of its pathogenesis and management, early diagnosis and effective treatment of glaucoma remain major clinical challenges. Epigenetic modifications, encompassing deoxyribonucleic acid (DNA) methylation, histone modifications, and non-coding RNAs, have emerged as critical regulators of gene expression and cellular processes. The aim of this comprehensive review focuses on the emerging field of epigenetics and its role in understanding the complex genetic and molecular mechanisms underlying glaucoma. The review will provide an overview of the pathophysiology of glaucoma, emphasizing the intricacies of intraocular pressure regulation, retinal ganglion cell dysfunction, and optic nerve damage. It explores how epigenetic modifications, such as DNA methylation and histone modifications, can influence gene expression, and how these mechanisms are implicated in glaucomatous neurodegeneration and contribute to glaucoma pathogenesis. The manuscript discusses evidence from both animal models and human studies, providing insights into the epigenetic alterations associated with glaucoma onset and progression. Additionally, it discusses the potential of using epigenetic modifications as diagnostic biomarkers and therapeutic targets for more personalized and targeted glaucoma treatment.

Publisher

MDPI AG

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