Molecular Advances in Rett Syndrome and Other Chromatin Related Disorders
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Medicine".
Deadline for manuscript submissions: 15 June 2025 | Viewed by 1522
Special Issue Editors
Interests: human genetics; Rett syndrome; chromatin diseases; epigenetics; epigenomics; MeCP2-mediated molecular mechanisms
Special Issues, Collections and Topics in MDPI journals
2. Department of Chemistry and Biology "A. Zambelli", University of Salerno, Via Giovanni Paolo II, 132, 84084 Fisciano, SA, Italy
Interests: Rett syndrome; chromatin diseases; molecular biology; epigenetics; epigenomics; MeCP2-mediated molecular mechanisms
Special Issue Information
Dear Colleagues,
Chromatin disorders are a class of genetic diseases resulting from mutations in components of the epigenetic machinery, which includes enzymatic factors (writers, erasers and chromatin remodelers) and non-enzymatic components (readers). Such dysfunctions are responsible for alterations in chromatin status, thereby causing drastic effects on gene expression, which can cause the onset of a series of clinical features. Although chromatinopathies are mostly considered individually rare, many of them are characterized by severe intellectual disability, multiple congenital malformations, and behavioral disfunctions which seriously impact the affected individuals, their families and society.
The study of global epigenetic changes in chromatin diseases offers a unique opportunity to understand still-unknown epigenetic processes, unravel the complex interactions of genetics and epigenetics in development and disease and increase our comprehension of disease pathogenesis.
Over the last few decades, a growing number of genetic defects have been discovered involving various components of the epigenetic machinery. Interestingly, the reversible nature of epigenetic modifications, along with better understanding of the pathophysiology of these disorders and the increasing availability of molecules/drugs able to target epigenetic marks, offer the scientific community an opportunity to develop novel therapeutic strategies.
Among many chromatin disorders, Rett syndrome (RTT), a severe childhood neurodevelopmental disease primarily affecting female individuals and caused by mutations in the epigenetic modulator MeCP2, can be considered a paradigmatic example of this class of pathologies.
This Special Issue aims to collect manuscripts (original articles and reviews) focused on Rett syndrome and other chromatin disorders which deal with the molecular mechanisms underlying disease pathogenesis, including genetic and epigenetic aspects, the description/discussion of novel diagnostic and prognostic approaches and preclinical studies for novel therapeutic strategies.
Dr. Floriana Della Ragione
Dr. Salvatore Fioriniello
Guest Editors
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Keywords
- Rett syndrome and other chromatin disorders
- epigenetic diseases
- molecular alterations in Rett syndrome and other chromatin diseases
- novel genes associated with chromatin disorders
- MeCP2-mediated molecular mechanisms
- roles of epigenetic modulators in chromatin-related diseases
- preclinical studies for chromatin diseases
- novel diagnostic, prognostic and therapeutic approaches for chromatin disorders
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