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Biomolecules
Special Issues
Molecular Advances in Rett Syndrome and Other Chromatin Related Disorders
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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: 31 December 2026 | Viewed by 8034

Special Issue Editors

Dr. Floriana Della Ragione

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Guest Editor
Institute of Genetics and Biophysics "Adriano Buzzati Traverso", CNR Via P. Castellino 111, 80131 Naples, Italy
Interests: human genetics; Rett syndrome; chromatin diseases; epigenetics; epigenomics; MeCP2-mediated molecular mechanisms
Special Issues, Collections and Topics in MDPI journals
Dr. Salvatore Fioriniello

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Guest Editor
1. Institute of Genetics and Biophysics "Adriano Buzzati Traverso", CNR, Via P. Castellino, 111, 80131 Naples, Italy
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

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomolecules is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

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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Published Papers (3 papers)

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Research

21 pages, 5497 KB  
Article
A Developmental Study of MeCP2 with Core and Linker Histones Indicates a Dynamic Change During Adolescent Brain Development in a Region- and Strain-Specific Manner in Mice
by Ashraf Kadar Shahib, Seyyed Mohyeddin Ziaee, Kazem Nejati-Koshki, James R. Davie and Mojgan Rastegar
Biomolecules 2026, 16(2), 337; https://doi.org/10.3390/biom16020337 - 23 Feb 2026
Viewed by 767
Abstract
Chromatin organization during postnatal development is very important for establishing neuronal function and may be disrupted in neurodevelopmental disorders that are associated with impaired brain function. Both the Methyl CpG-binding protein 2 (MeCP2) and the linker histone H1 are important chromatin regulators. Still, [...] Read more.
Chromatin organization during postnatal development is very important for establishing neuronal function and may be disrupted in neurodevelopmental disorders that are associated with impaired brain function. Both the Methyl CpG-binding protein 2 (MeCP2) and the linker histone H1 are important chromatin regulators. Still, their developmental expression patterns and functional interactions across diverse genetic backgrounds are not well understood. This study examined changes in histone H1, histone H3, and MeCP2 levels in CD1 and C57BL/6 mice in two different strains, in the liver, cerebellum, and cerebral hemispheres obtained at two adolescent developmental stages [P21 (postnatal day 21) and P56]. We show that both strains have significant cerebral-specific increases in MeCP2 and H1, while H3 levels remain consistent. The CD1 strain exhibited hepatic H1 elevation between early (P21) and late (P56) adolescence, which was absent in the C57BL/6 strain. This highlights possible strain-dependent postnatal dynamic chromatin organization. Analysis of Mecp2T158M (Mecp2tm4.1Bird) mutant mice showed compensatory H1 elevation in the Purkinje layer of the cerebellum, indicating possible functional relation between these two chromatin-bound proteins. Despite having minimal MeCP2 protein levels, mutant mice had higher amounts of Mecp2 transcripts, suggesting post-transcriptional/post-translational regulations. Our results demonstrate that H1 and MeCP2 are subject to coordinated developmental control with possible interplay with the chromatin structure. Full article
(This article belongs to the Special Issue Molecular Advances in Rett Syndrome and Other Chromatin Related Disorders)
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20 pages, 16630 KB  
Article
MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping
by Martina Mietto, Silvia Montanari, Maria Sofia Falzarano, Elisa Manzati, Paola Rimessi, Marina Fabris, Rita Selvatici, Francesca Gualandi, Marcella Neri, Fernanda Fortunato, Miryam Rosa Stella Foti, Stefania Bigoni, Marco Gessi, Marcella Vacca, Silvia Torelli, Joussef Hayek and Alessandra Ferlini
Biomolecules 2025, 15(5), 687; https://doi.org/10.3390/biom15050687 - 8 May 2025
Cited by 3 | Viewed by 3164
Abstract
Rett syndrome (RTT) is a rare X-linked dominant neurodevelopmental disorder caused by pathogenic variants in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a methyl-CpG-binding protein (MeCP2) that acts as a repressor of gene expression, crucial in neurons. Dysfunction of MeCP2 [...] Read more.
Rett syndrome (RTT) is a rare X-linked dominant neurodevelopmental disorder caused by pathogenic variants in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a methyl-CpG-binding protein (MeCP2) that acts as a repressor of gene expression, crucial in neurons. Dysfunction of MeCP2 due to its pathogenic variants explains the clinical features of RTT. Here, we performed histological and RNA analyses on a post-mortem brain sample from an RTT patient carrying the p.Arg106Trp missense mutation. This patient is part of a cohort of 56 genetically and clinically characterized RTT patients, for whom we provide an overview of the mutation landscape. In the RTT brain specimen, RT-PCR analysis detected preferential transcription of the mutated mRNA. X-inactivation studies revealed a skewed X-chromosome inactivation ratio (95:5), supporting the transcriptional findings. We also mapped the MECP2 transcript in control human brain regions (temporal cortex and cerebellum) using the RNAscope assay, confirming its high expression. This study reports the MECP2 transcript representation in a post-mortem RTT brain and, for the first time, the in situ MECP2 transcript localization in a human control brain, offering insights into how specific MECP2 mutations may differentially impact neuronal functions. We suggest these findings are crucial for developing RNA-based therapies for Rett syndrome. Full article
(This article belongs to the Special Issue Molecular Advances in Rett Syndrome and Other Chromatin Related Disorders)
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14 pages, 1591 KB  
Article
Boosting Serotonin Synthesis Is Not Sufficient to Improve Motor Coordination of Mecp2 Heterozygous Mouse Model of Rett Syndrome
by Claudia Villani, Giuseppina Sacchetti and Roberto W. Invernizzi
Biomolecules 2024, 14(10), 1230; https://doi.org/10.3390/biom14101230 - 29 Sep 2024
Cited by 1 | Viewed by 2467
Abstract
Motor deficit is a core symptom of Rett syndrome, a rare neurological disease caused in most cases by mutations of the methyl-CpG-binding protein2 (MECP2) gene. Serotonin reuptake inhibitors improve motor coordination in Mecp2 heterozygous (Het) mice and serotonin depletion prevented this [...] Read more.
Motor deficit is a core symptom of Rett syndrome, a rare neurological disease caused in most cases by mutations of the methyl-CpG-binding protein2 (MECP2) gene. Serotonin reuptake inhibitors improve motor coordination in Mecp2 heterozygous (Het) mice and serotonin depletion prevented this effect. Here, we assess alterations in indole levels in various brain regions and whether boosting brain serotonin synthesis with the serotonin precursors tryptophan, 5-hydroxytryptophan and α-lactalbumin rescued motor coordination deficit of Mecp2 Het mice. Motor coordination was assessed in the accelerated rotarod during and after systemic administration of serotonin precursors for 2–3 weeks. Since no data are available, the effect of α-lactalbumin on tryptophan, serotonin and 5-hydroxyindoleacetic acid levels was evaluated in various brain regions in order to identify the dose of ALAC to evaluate on motor coordination. As compared to WT, Mecp2 Het mice show reduced levels of serotonin in the whole brain, hippocampus, brainstem and cerebral cortex, but not the striatum. Reduced levels of 5-hydroxyindoleacetic acid were observed in the hippocampus and brainstem. Doses of serotonin precursors increasing brain tryptophan and/or serotonin production and metabolism had no effect on motor coordination. The results indicate that boosting serotonin synthesis is not sufficient to improve motor coordination of Mecp2 Het mice. Full article
(This article belongs to the Special Issue Molecular Advances in Rett Syndrome and Other Chromatin Related Disorders)
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