Combining stem cells and exon skipping strategy to treat muscular dystrophy

Mirella Meregalli, Andrea Farini, Yvan Torrente

Research output: Chapter in Book/Report/Conference proceedingChapter


Muscular dystrophies are a group of diseases characterized by the primary wasting of skeletal muscle. Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The characterization of the dystrophin gene and the evidence that adult stem cells are capable of participating into regeneration of more than its resident organ has lead to the development of potential gene therapy and stem cells treatments for this disorder. The combination of gene therapy and stem cell therapy may represent a very promising strategy. In this chapter, we describe an example of such combined therapy. We first corrected mutation in DMD pateints' stem cells with antisense oligonucelotide mediated exon skipping. The corrected stem cells were then delivered to the mdx mouse model via intra-arterial injection. This approach has several advantages. Intravascular delivery distributes the stem cells to the whole body musculature. The use of the autologous transplantation minimizes the risk of immunological graft rejection.

Original languageEnglish
Title of host publicationMuscle Gene Therapy
PublisherSpringer New York
Number of pages8
ISBN (Print)9781441912077, 9781441912053
Publication statusPublished - 2010


  • Adult stem cells
  • AON
  • DMD
  • Exon skipping
  • Muscular dystrophies
  • Viral vectors

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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