rAAV Gene Therapy for Myotonic Dystrophy

Technology #11455

Utilizes rAAV Expression of Human Muscleblind Proteins

This gene therapy employs recombinant adeno-associated viruses (rAAVs) that express human muscleblind proteins, treating myotonic dystrophy and other diseases caused by repeat microsatellite mutation expressions in coding and non-coding regions. Myotonic dystrophy is a dominantly inherited multi-systemic disorder that results in delayed muscle relaxation, muscle degeneration, cardiac conduction defects and cerebral atrophy. Myotonic dystrophy affects more than 40,000 people in the United States, and existing treatments simply manage some disease symptoms rather than treat this disease. It is proposed that myotonic dystrophy cells cause sequestration of human muscleblind proteins, and that abnormally low levels of human muscleblind proteins lead to the onset and progression of myotonic dystrophy. University of Florida researchers have developed a rAAV gene therapy that expresses human muscleblind proteins to treat myotonic dystrophy. The rAAVs express human muscleblind proteins and target cells that do not possess sufficient human muscleblind protein activity. The expressed cells have been shown to functionally reverse myotonic dystrophy-related phenotypes.


rAAVs that treat myotonic dystrophy by expressing human muscleblind proteins


  • Utilizes rAAVs to target cells capable of expressing human muscleblind proteins, preventing onset and progression of myotonic dystrophy by increasing muscleblind protein levels
  • Reverses myotonic dystrophy effects, treating the disease rather than simply slowing its progress


Myotonic dystrophy is caused by trinucleotide and tetranucleotide repeat expansion mutations in the untranslated regions of the DMPK (DM1) and CNBP (DM2) genes. The DM1 and DM2 mutant RNA transcripts sequester human muscleblind proteins, \a family of RNA-binding factors that regulate RNA processing during development. This leads to the loss of normal human muscleblind protein activity and results in myotonic dystrophy disease. This gene therapy treats myotonic dystrophy through the use of rAAVs that express human muscleblind proteins. By targeting cells that are capable of expressing human muscleblind protein activity, this gene therapy results in an overexpression of human muscleblind proteins. This overexpression functionally reverses myotonic dystrophy-related phenotypes, treating the disease rather than simply slowing its progress.