Role of epigenetic regulation in glaucoma

Feng, Lemeng; Wang, Chao; Zhang, Cheng; Zhang, Wulong; Song, Weitao

doi:10.1016/j.biopha.2023.115633

Cited by 5 publications

(6 citation statements)

References 229 publications

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“…connections between genetics and environmental and/or lifestyle factors [46,66] (Figure 2). Three broad strands of research continue to provide us with new results in the process of elucidating mechanisms leading to glaucoma: identification of variants in genes powerful enough to have a clearly pathogenic effect [67], GWASs aiming at the characterisation of predisposing or protective SNPs [68,69], and studies on the identification of epigenetic mechanisms [46,47].…”

Section: Discussionmentioning

confidence: 99%

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Epigenetics in Glaucoma

D’Esposito,

Gagliano,

Bloom

et al. 2024

Medicina

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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.

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Section: Discussionmentioning

confidence: 99%

“…Non-coding RNAs have also been demonstrated to play a role in the pathogenesis of glaucoma [ 47 , 48 ]. Recent research has shed light on the mechanisms by which these non-coding RNAs influence gene expression and contribute to disease processes.…”

Section: Epigenetic Modifications In Glaucomamentioning

confidence: 99%

Epigenetics in Glaucoma

D’Esposito,

Gagliano,

Bloom

et al. 2024

Medicina

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“…DNA methylation was detected in mammals as early as DNA was determined as the genetic material [ 14 , 15 , 16 ]. In 1948, Rollin Hotchkiss first discovered modified cytosine in a preparation of calf thymus using paper chromatography.…”

Section: Mechanismsmentioning

confidence: 99%

“…DNA methylation is an epigenetic mechanism affecting the transfer of a methyl group onto the C5 position of the cytosine to form 5-methylcytosine. DNA methylation regulates gene expression by recruiting proteins involved in gene repression or by inhibiting the binding of transcription factors to DNA [ 16 ]. More specifically, DNA methyltransferases (DNMTs) transfer a methyl group from the co-factor S-adenosylmethionine (SAM) to the 5′-position of the cytosine ring in DNA, forming 5mC and completing methylation.…”

Section: Mechanismsmentioning

confidence: 99%

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Exploring Epigenetic Modifications as Potential Biomarkers and Therapeutic Targets in Glaucoma

Tonti,

Dell’Omo,

Filippelli

et al. 2024

IJMS

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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.

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