Epigenetic Mechanisms and Their Involvement in Rare Diseases

Epigenetic mechanisms are dynamic processes during life that control gene expression and cellular function, independent of the genomic DNA sequences and dictate the morphology of specific cell types. Accordingly, these mechanisms control stem cell fate commitment at different stages of developmental and their deregulation leads to human disease. Recent advances in molecular, cellular, and stem cell biology have highlighted the role of epigenetics and epigenetic factors in cellular function and metabolism through the activity of mediator factors and their crosstalk with cell-signalling molecules. In this regard, genetic mutation and/or altered expression of the three types of epigenetic modulators, "Writers, Readers, and Erasers," may lead to developmental disorders and human disease. These regulatory mechanisms act at different biological levels that include transcriptional, post-transcriptional, and translational levels. Subsequently, the activity of cell-signalling molecules may impact fundamental cellular function and post-translational mechanisms linking epigenetics to protein post-translational modifications.

In this research topic, we invite Original Research and Review articles that highlight epigenetic mechanisms and epigenetic factors that control fundamental developmental processes impacting cellular function and/or metabolism and signalling pathways highlighting their impact in health and disease conditions with a clear focus on rare disorders. Studies that cover different cellular and animal model systems and patient-derived discoveries are welcome. This collection is expected to provide a better understanding of the cellular biology and mechanism of disease, providing important insight into the translation of basic science into therapeutic strategies for rare human diseases.