AAV9-mediated gene transfer of desmin ameliorates cardiomyopathy in desmin-deficient mice

Gene Ther. 2016 Aug;23(8-9):673-9. doi: 10.1038/gt.2016.40. Epub 2016 Apr 21.

Abstract

Mutations of the human desmin (DES) gene cause autosomal dominant and recessive myopathies affecting skeletal and cardiac muscle tissue. Desmin knockout mice (DES-KO), which develop progressive myopathy and cardiomyopathy, mirror rare human recessive desminopathies in which mutations on both DES alleles lead to a complete ablation of desmin protein expression. Here, we investigated whether an adeno-associated virus-mediated gene transfer of wild-type desmin cDNA (AAV-DES) attenuates cardiomyopathy in these mice. Our approach leads to a partial reconstitution of desmin protein expression and the de novo formation of the extrasarcomeric desmin-syncoilin network in cardiomyocytes of treated animals. This finding was accompanied by reduced fibrosis and heart weights and improved systolic left-ventricular function when compared with control vector-treated DES-KO mice. Since the re-expression of desmin protein in cardiomyocytes of DES-KO mice restores the extrasarcomeric desmin-syncoilin cytoskeleton, attenuates the degree of cardiac hypertrophy and fibrosis, and improves contractile function, AAV-mediated desmin gene transfer may be a novel and promising therapeutic approach for patients with cardiomyopathy due to the complete lack of desmin protein expression.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actin Cytoskeleton / metabolism
  • Animals
  • Cardiomyopathies / genetics
  • Cardiomyopathies / therapy*
  • Dependovirus / genetics*
  • Desmin / genetics*
  • Desmin / metabolism
  • Genetic Therapy*
  • Genetic Vectors / genetics
  • Intermediate Filament Proteins / metabolism
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Muscle Proteins / metabolism
  • Myocardial Contraction
  • Myocytes, Cardiac / metabolism
  • Ventricular Function, Left

Substances

  • Desmin
  • Intermediate Filament Proteins
  • Muscle Proteins
  • Sync protein, mouse