Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

Hum Mol Genet. 2010 May 15;19(10):1897-907. doi: 10.1093/hmg/ddq065. Epub 2010 Feb 13.

Abstract

Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair, providing a potential hypothesis to the underlying pathophysiology of these diseases. The size of the dysferlin cDNA prevents its direct incorporation into an adeno-associated virus (AAV) vector for therapeutic gene transfer into muscle. To bypass this limitation, we split the dysferlin cDNA at the exon 28/29 junction and cloned it into two independent AAV vectors carrying the appropriate splicing sequences. Intramuscular injection of the corresponding vectors into a dysferlin-deficient mouse model led to the expression of full-length dysferlin for at least 1 year. Importantly, systemic injection in the tail vein of the two vectors led to a widespread although weak expression of the full-length protein. Injections were associated with an improvement of the histological aspect of the muscle, a reduction in the number of necrotic fibers, restoration of membrane repair capacity and a global improvement in locomotor activity. Altogether, these data support the use of such a strategy for the treatment of dysferlin deficiency.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Crosses, Genetic
  • Dependovirus / genetics*
  • Dysferlin
  • Female
  • Gene Transfer Techniques*
  • Genetic Therapy*
  • Genetic Vectors / genetics*
  • Injections, Intramuscular
  • Male
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics
  • Membrane Proteins / therapeutic use*
  • Membranes / pathology
  • Mice
  • Mice, Inbred C57BL
  • Muscle Proteins / deficiency*
  • Muscle Proteins / genetics
  • Muscle Proteins / therapeutic use*
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Muscular Dystrophies, Limb-Girdle / therapy
  • Mutation
  • Phenotype
  • Transgenes
  • Wound Healing

Substances

  • DYSF protein, human
  • Dysferlin
  • Membrane Proteins
  • Muscle Proteins