Final Report Summary - NCRNAS-SPLICING-FSHD (Aberrant gene expression and muscular dystrophy: role of non-coding RNAs and alternative splicing in the pathogenesis and potential therapies.)
Facioscapulohumeral muscular dystrophy is one of the most prevalent neuromuscular diseases. Results from this project provide significant advance to the understanding of FSHD pathogenesis. Molecular mechanisms controlling the expression of FSHD candidate genes have been discovered. The biological role of FSHD candidate genes and how their aberrant expression leads to disease has been elucidated. These allowed developing and testing possible therapeutic approaches in relevant animal models of FSHD.