Gene therapies that restore dystrophin expression for the treatment of Duchenne muscular dystrophy.

Journal Article (Review;Journal Article)

Duchenne muscular dystrophy is one of the most common inherited genetic diseases and is caused by mutations to the DMD gene that encodes the dystrophin protein. Recent advances in genome editing and gene therapy offer hope for the development of potential therapeutics. Truncated versions of the DMD gene can be delivered to the affected tissues with viral vectors and show promising results in a variety of animal models. Genome editing with the CRISPR/Cas9 system has recently been used to restore dystrophin expression by deleting one or more exons of the DMD gene in patient cells and in a mouse model that led to functional improvement of muscle strength. Exon skipping with oligonucleotides has been successful in several animal models and evaluated in multiple clinical trials. Next-generation oligonucleotide formulations offer significant promise to build on these results. All these approaches to restoring dystrophin expression are encouraging, but many hurdles remain. This review summarizes the current state of these technologies and summarizes considerations for their future development.

Full Text

Duke Authors

Cited Authors

  • Robinson-Hamm, JN; Gersbach, CA

Published Date

  • September 2016

Published In

Volume / Issue

  • 135 / 9

Start / End Page

  • 1029 - 1040

PubMed ID

  • 27542949

Pubmed Central ID

  • PMC5006996

Electronic International Standard Serial Number (EISSN)

  • 1432-1203

International Standard Serial Number (ISSN)

  • 0340-6717

Digital Object Identifier (DOI)

  • 10.1007/s00439-016-1725-z


  • eng