Recent Progress with Duchenne Disease: From Molecular Pathology to Therapies

Dear Colleagues,

Although the genetic cause of Duchenne muscular dystrophy (DMD) has been known since the 1980s, some key points of its pathophysiology have yet to be clarified. For instance, the reason for the non-uniform DMD mRNA expression throughout its length with the 3’-end less expressed than the 5’-end, a phenomenon also known as transcript imbalance, has not yet been fully elucidated. Recently, some studies have reported impaired intracellular trafficking of the DMD transcript, which tends to be retained in the nuclei of DMD patient cells and muscle biopsies from the DMD mdx mouse model. Apparently, the DMD transcript is not the only one that undergoes structural changes during DMD disease; the chromatin at the DMD locus also becomes more compact and less prone to transcription. Furthermore, probably due to the lack of a deep understanding of underlying pathophysiological mechanisms, the phenotype–genotype correlation is still difficult to determine in DMD children, especially with regard to cognitive impairment, given the high number of DMD splicing variants, whose rules, localisations and interactions are still unclear. Improving our knowledge of the molecular mechanisms underlying Duchenne muscular dystrophy would have a significant impact on the development of genetic therapies, clinical management of patients and more accurate genomic counseling. This Special Issue welcomes original research articles, reviews and case studies reporting new findings on the molecular mechanisms of the pathophysiology of Duchenne muscular dystrophy, descriptions of molecular assays for pathology studies and diagnostic purposes, and articles reporting improvements in current or new therapies.

Systematic reviews and critical analyses describing state-of-the-art knowledge and treatment of DMD disease will also be considered.

Dr. Rachele Rossi
Guest Editor

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• duchenne and becker muscular dystrophy
• DMD transcript studies
• molecular mechanisms
• translational medicine
• biology of myopathies
• DMD gene therapies