Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy

Mol Ther. 2012 Jun;20(6):1131-8. doi: 10.1038/mt.2012.39. Epub 2012 Mar 6.

Abstract

Very long-chain acyl-coA dehydrogenase (VLCAD) is the rate-limiting step in mitochondrial fatty acid oxidation. VLCAD-deficient mice and patients clinical symptoms stem from not only an energy deficiency but also long-chain metabolite accumulations. VLCAD-deficient mice were treated systemically with 1 × 10(12) vector genomes of recombinant adeno-associated virus 9 (rAAV9)-VLCAD. Biochemical correction was observed in vector-treated mice beginning 2 weeks postinjection, as characterized by a significant drop in long-chain fatty acyl accumulates in whole blood after an overnight fast. Changes persisted through the termination point around 20 weeks postinjection. Magnetic resonance spectroscopy (MRS) and tandem mass spectrometry (MS/MS) revealed normalization of intramuscular lipids in treated animals. Correction was not observed in liver tissue extracts, but cardiac muscle extracts showed significant reduction of long-chain metabolites. Disease-specific phenotypes were characterized, including thermoregulation and maintenance of euglycemia after a fasting cold challenge. Internal body temperatures of untreated VLCAD(-/-) mice dropped below 20 °C and the mice became lethargic, requiring euthanasia. In contrast, all rAAV9-treated VLCAD(-/-) mice and the wild-type controls maintained body temperatures. rAAV9-treated VLCAD(-/-) mice maintained euglycemia, whereas untreated VLCAD(-/-) mice suffered hypoglycemia following a fasting cold challenge. These promising results suggest rAAV9 gene therapy as a potential treatment for VLCAD deficiency in humans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency
  • Acyl-CoA Dehydrogenase, Long-Chain / genetics
  • Animals
  • Carnitine / analogs & derivatives
  • Carnitine / blood
  • Congenital Bone Marrow Failure Syndromes
  • Dependovirus / genetics*
  • Gene Expression
  • Genetic Therapy*
  • Genetic Vectors / administration & dosage*
  • Genetic Vectors / pharmacokinetics
  • Lipid Metabolism
  • Lipid Metabolism, Inborn Errors / genetics
  • Lipid Metabolism, Inborn Errors / therapy*
  • Liver / metabolism
  • Mice
  • Mice, Knockout
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / therapy*
  • Muscle, Skeletal / metabolism
  • Muscular Diseases / genetics
  • Muscular Diseases / therapy*
  • Phenotype
  • Tissue Distribution
  • Transduction, Genetic

Substances

  • acylcarnitine
  • Acyl-CoA Dehydrogenase, Long-Chain
  • Carnitine

Supplementary concepts

  • VLCAD deficiency