Practical Course DMD 02. Epigenetics in DMD

This course provides a comprehensive and up-to-date overview of the role of epigenetics in Duchenne muscular dystrophy, addressing both fundamental biological mechanisms and their clinical and therapeutic implications. Throughout the content, the main epigenetic mechanisms regulating gene expression are reviewed, including DNA methylation, post-translational histone modifications, and the action of non-coding RNAs, as well as their interaction with environmental and metabolic factors. The course explores the pathophysiology of the disease from an epigenetic perspective, analyzing how the absence of dystrophin disrupts cellular homeostasis and leads to the dysregulation of histone deacetylases (HDACs). This alteration has a direct impact on muscle regeneration, satellite cell differentiation, and the inflammatory response, promoting disease progression and the replacement of muscle tissue with fibrotic and adipose tissue. It also examines the role of microRNAs, particularly so-called miomiRs, in the regulation of myogenesis and tissue regeneration processes, as well as the interplay between cellular metabolism and the epigenome as a key axis in gene expression modulation. In addition, the course addresses the clinical applications of epigenetics, including the development of epigenetic biomarkers and new therapeutic strategies aimed at modulating HDAC activity. Overall, it integrates advances in molecular epigenetics with disease understanding, providing a solid foundation for the development of new diagnostic and therapeutic approaches in Duchenne muscular dystrophy.