Epigenetics in Glaucoma.

Caterina Gagliano, Giuseppe Gagliano, Teresio Avitabile, Ciro Costagliola, Fabiana D'Esposito, Alessandro Avitabile, Marco Zeppieri, Mutali Musa, Philip Anthony Bloom, Maria Francesca Cordeiro

Journal: Medicina (Kaunas, Lithuania) 2024;60(6):

PMID: 38929522

Free Full Text on MDPI View on PubMed

Abstract

Primary open angle glaucoma (POAG) is defined as a "genetically complex trait", where modifying factors act on a genetic predisposing background. For the majority of glaucomatous conditions, DNA variants are not sufficient to explain pathogenesis. Some genes are clearly underlying the more "Mendelian" forms, while a growing number of related polymorphisms in other genes have been identified in recent years. Environmental, dietary, or biological factors are known to influence the development of the condition, but interactions between these factors and the genetic background are poorly understood. Several studies conducted in recent years have led to evidence that epigenetics, that is, changes in the pattern of gene expression without any changes in the DNA sequence, appear to be the missing link. Different epigenetic mechanisms have been proven to lead to glaucomatous changes in the eye, principally DNA methylation, post-translational histone modification, and RNA-associated gene regulation by non-coding RNAs. The aim of this work is to define the principal epigenetic actors in glaucoma pathogenesis. The identification of such mechanisms could potentially lead to new perspectives on therapeutic strategies.

Address: Imperial College Ophthalmic Research Group (ICORG) Unit, Imperial College, London NW1 5QH, UK.; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, 80131 Naples, Italy.; Department of Medicine and Surgery, University of Enna "Kore", Piazza dell'Università, 94100 Enna, Italy.; Department of Medicine and Surgery, University of Enna "Kore", Piazza dell'Università, 94100 Enna, Italy.; Eye Clinic, Catania University San Marco Hospital, Viale Carlo Azeglio Ciampi, 95121 Catania, Italy.; Imperial College Ophthalmic Research Group (ICORG) Unit, Imperial College, London NW1 5QH, UK.; Western Eye Hospital, Imperial College Healthcare NHS Trust, London NW1 5QH, UK.; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, 80131 Naples, Italy.; Western Eye Hospital, Imperial College Healthcare NHS Trust, London NW1 5QH, UK.; Eye Clinic, Catania University San Marco Hospital, Viale Carlo Azeglio Ciampi, 95121 Catania, Italy.; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, 80131 Naples, Italy.; Department of Optometry, University of Benin, Benin City 300238, Nigeria.; Department of Ophthalmology, University Hospital of Udine, 33100 Udine, Italy.

DOI: 10.3390/medicina60060905

Link outs

Free resources

Full Text Sources:

MeSH Terms: Humans, Epigenesis, Genetic, DNA Methylation, Glaucoma, Open-Angle, Glaucoma, Genetic Predisposition to Disease