Molecular and Cellular Basis of Chromatinopathies II
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cell Nuclei: Function, Transport and Receptors".
Deadline for manuscript submissions: closed (25 October 2022) | Viewed by 197
Special Issue Editor
Interests: medical genetics; epigenetics; chromatinopathies; disease discovery; TRIM proteins
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
The regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and the maintenance of cell identity. Chromatinopathies are a large group of Mendelian disorders caused by genetic alterations of the various components of the epigenetic machinery. Although most chromatinopathies are characterized by intellectual and neurological dysfunctions and a constellation of ancillary findings and/or facial dysmorphic features, the clinical and molecular overlap among them is being increasingly described as an expected result of convergent pathogenesis.
Studies of model organisms and patients’ cells have demonstrated dosage sensitivity of the causative genes, with haploinsufficiency as the predominant disease mechanism. Experimental evidence has shown that chromatinopathies’ genes disrupt both the chromatin and transcription states of target genes downstream and modify DNA methylation on a global scale.
Finally, many therapies targeting epigenetic marks already exist. Therefore, along with the observation that neurological dysfunction in these disorders may be treatable in postnatal life, it can be suggested that chromatinopathies are potentially curable.
This Special Issue on chromatinoapthies aims to highlight the current knowledge on relevant pathogenetic mechanisms of chromatinopathies as well as therapeutic prospects for this very particular and well-defined group of disorders. Reviews and original research articles are welcome in this regard.
Dr. Giuseppe Merla
Guest Editor
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Keywords
- histones
- methylation
- epigenetics
- gene expression
- intellectual disability
Related Special Issue
- Molecular and Cellular Basis of Chromatinopathies in Cells (1 article)
