MOLECULAR MECHANISMS LEADING TO DUCHENNE MUSCULAR DYSTROPHY AND GENE THERAPY APPROACHES – A LITERATURE REVIEW

Abstract

Duchenne Muscular Dystrophy (DMD) is an X-linked disorder manifesting in early childhood. The affected boys initially experience proximal muscular weakness, with cardiorespiratory complications leading to death at the end of the second decade. DMD results from mutations in the dystrophin gene. The molecular mechanisms leading to muscle degeneration are complex. Dystrophin gene restoration methods have been developed and include nonsense mutations read-through and exon skipping. Viral-mediated gene therapy has been designed. The outcome of gene therapy approaches and further development of technologies for the modification of the dystrophin gene have presented encouraging results for the treatment of this common pediatric disorder. The aim of this study is to present the basic mechanisms leading to DMD and the most important gene therapy approaches.