Molecular Advances in Rett Syndrome and Other Chromatin Related Disorders

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 100 words) can be sent to the Editorial Office for announcement on this website.

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.

• 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