Final Report Summary - MUNCODD (Role of long non coding RNA in muscle differentiation and disease)
The MUNCODD project has allowed to identify the entire repertoire of non coding RNAs that are expressed during human and murine myogenesis and to attribute specific functions to several of these species in the control of muscle differentiation and homeostasis, including the heart. Through the study of non canonical RNA species, we were also able to characterize a novel class of transcripts with a peculiar circular structure (circRNAs) and to show that they too play crucial functions in myogenesis.
Finally, MUNCODD identified a novel possible approach for the therapy of Duchenne Muscular Dystrophy (DMD). Through the study of a DMD patient, we discovered that the ablation of a specific splicing factor (Celf2a) can become curative for those patients where skipping of exon 45 can rescue dystrophin production. In more general terms this study also points to the relevance of studying the genomic milieu of different patients in order to facilitate the clinical development of personalized therapies.