{"title":"Exploring Histone Modifications in Inherited Retinal Disorders.","authors":"Luigi Mazzeo, Yvan Arsenijevic, Adeline Berger","doi":"10.1007/978-3-031-76550-6_31","DOIUrl":null,"url":null,"abstract":"<p><p>Inherited retinal disorders (IRD) represent a heterogeneous group of retinal diseases, mainly leading to a progressive photoreceptor cell death, and for which almost no treatment exists. Despite the diversity in genetic components of IRD, several studies evidence the activation of common cellular pathways, regulated by epigenetic modifications. Since these ones are reversible, a growing interest emerges in proposing a gene-agnostic approach to treat IRD through epigenetic modulation. Among the epigenetic mechanisms, this review focuses on post-translational modifications of histones, which are key players in gene expression regulation, through their interaction with transcription regulators and their role in chromatin compaction. Mechanistic studies and efficiency assessment of histone mark modifiers, mainly conducted on IRD animal models, revealed a promising potential of this approach to further understand photoreceptor degeneration and treat IRD in humans.</p>","PeriodicalId":7270,"journal":{"name":"Advances in experimental medicine and biology","volume":"1468 ","pages":"189-193"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Advances in experimental medicine and biology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/978-3-031-76550-6_31","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
引用次数: 0
Abstract
Inherited retinal disorders (IRD) represent a heterogeneous group of retinal diseases, mainly leading to a progressive photoreceptor cell death, and for which almost no treatment exists. Despite the diversity in genetic components of IRD, several studies evidence the activation of common cellular pathways, regulated by epigenetic modifications. Since these ones are reversible, a growing interest emerges in proposing a gene-agnostic approach to treat IRD through epigenetic modulation. Among the epigenetic mechanisms, this review focuses on post-translational modifications of histones, which are key players in gene expression regulation, through their interaction with transcription regulators and their role in chromatin compaction. Mechanistic studies and efficiency assessment of histone mark modifiers, mainly conducted on IRD animal models, revealed a promising potential of this approach to further understand photoreceptor degeneration and treat IRD in humans.
期刊介绍：
Advances in Experimental Medicine and Biology provides a platform for scientific contributions in the main disciplines of the biomedicine and the life sciences. This series publishes thematic volumes on contemporary research in the areas of microbiology, immunology, neurosciences, biochemistry, biomedical engineering, genetics, physiology, and cancer research. Covering emerging topics and techniques in basic and clinical science, it brings together clinicians and researchers from various fields.
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