Transcriptomic Profile of Skeletal Muscle Biopsies from Duchenne and Becker Muscular Dystrophy Patients

The database includes the raw data of the article “Transcriptomic Profile of Skeletal Muscle Biopsies from Duchenne and Becker Muscular Dystrophy Patients”. In this work we aimed to evaluate the transcriptomic profile in muscle biopsy derived from DMD and BMD patients. We collected RNA obtained from muscle biopsy of pediatric DMD patients (n=12) and BMD patients (n=6). Through RNA sequencing, the differentially expressed (DE) genes of DMD patients versus BMD patients were analyzed. We evaluated the most enriched DE genes and relative pathways differentially involved between BMD and DMD. Finally, we validated our results by RT-qPCR. DMD patients compared to BMD patients showed a particular activation of genes involved in collagen synthesis, extracellular matrix organization, and Oncostatin M-dependent pathways, which plays an important role in the fibrosis process following its activation. This suggests that a more severe phenotype in DMD than BMD patients may be due to greater deregulation of these pathways, reflecting the clinical picture of the patients observed. This study provides preliminary insights into the difference in gene expression between the two groups and lays the basis for the identification of possible mechanism that differentiate between the two diseases.