Editorial: Epigenetic mechanisms and their involvement in rare diseases, volume II

This current research topic includes articles on the epigenetic basis of rare neurological diseases that are authored by Tom Moss and collogues 2023 [2]; Roberts et al., 2024 [3]; as well as the impact of epigenetic in other rare diseases covered by Fu et al. 2023 [4]; and Lyu et al., 2023 [5].In a comprehensive review, Moss et al., discusses the UBTF E210K neuroregression syndrome as part of ribosomopathy diseases. The authors focus on UBF that is an epigenetic regulator of ribosomal DNA (rDNA) genes, and a transcriptional regulator acting at the level of chromatin structure. Indeed, UBF controls the open chromatin state at the rDNA genes and a basal trans-acting factor directing rRNA transcription by RNA Polymerase I. Through a series of interesting concepts on rRNA transcription, the authors cover a large volume of current literature on 47S primary rRNA transcription and processing into smaller mature rRNA molecules. They comprehensively discuss UBF as a multi-HMGB-box protein and the role of different variants in human disease. This article is further complemented with five illustrations that are elegantly designed to capture the main points of this manuscript [2].In a recent article, Roberts at al., review the main epigenetic mechanisms that are involved in rare neurological diseases. This manuscript starts with a definition of rare diseases and an illustration of the prevalence of a disease to be considered as "rare disease" based on the geographic location around the world. The authors provide a comprehensive and up-to-date overview of the etiology, clinical symptoms, associated epigenetic basis, and genetic causes of selected neurological diseases. This includes the following diseases: Rett Syndrome, Rubinstein-Taybi Syndrome, Angelman syndrome, Prader-Willi Syndrome, and Huntington's disease. The article includes six Figures and a Table . As an example of a rare disease, for Rett Syndrome that is caused by MECP2 mutation, the authors describe the functional role of MeCP2 protein and its isoforms, different developmental stages of the disease, MECP2 gene structure, the impact of its genetic mutations on the functional role of MeCP2 as a DNA methylationbinding protein, its regulatory role on RNA splicing and the global epigenomics of brain cells. Additional discussions on MeCP2 protein function includes regulation of the chromatin structure, ribosomal targets, and potential impact on other epigenetic modifications [3].. The authors present a global perspective and discuss the application of next generation sequencing and bioinformatics in the associated pathophysiology in the affected patients. In the comprehensively prepared Table 1 of the article, they highlight the role of DNA methylation, histone PTM, and other modes of epigenetic regulations such as chromatin remodeling, in association with epigenetic factors, the causative genetic basis, for specific cases of RDEOs. For each of these rare diseases of epigenetic origin, the OMIM entry is also presented. The authors further discuss the challenges in the study of rare diseases of epigenetic origin and the potential opportunities. This article is complemented with two well-designed illustrations [4].In another article, Lyu and collogues provide an overview of the role of DNA modifications in liver fibrosis. The authors discuss the pathogenesis of hepatic fibrosis description of liver fibrosis, as a repair mechanism for the damage and injury of liver. They then present evidence from published literature to link this process to DNA methylation. The article covers the basis of hepatic stellate cell activation in case of liver damage and/or inflammation. Specific factors and cell signaling pathways are discussed that play key roles in this process. This article presents an overview on the application of nucleoside and nonnucleoside analogs in terms of their usage in inhibiting DNA methylation. Discussed inhibitors of DNA methylation from the nucleoside group include: 5-Azacytidine and 5-Aza-deoxycytidine, Zebularine, and Guadecitabine. The authors also discuss non-nucleoside analogs that are inhibitors of DNA methylation. This article is complemented with a Figure that shows connection between liver injury, activation of hepatic stellate cells, DNA methylation, and gene regulation [5].

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