Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector

Hum Gene Ther. 2014 Jun;25(6):529-38. doi: 10.1089/hum.2013.111. Epub 2014 Apr 2.

Abstract

Methylmalonic aciduria is a rare disorder of organic acid metabolism with limited therapeutic options, resulting in high morbidity and mortality. Positive results from combined liver/kidney transplantation suggest, however, that metabolic sink therapy may be efficacious. Gene therapy offers a more accessible approach for the treatment of methylmalonic aciduria than organ transplantation. Accordingly, we have evaluated a lentiviral vector-mediated gene transfer approach in an in vivo mouse model of methylmalonic aciduria. A mouse model of methylmalonic aciduria (Mut(-/-)MUT(h2)) was injected intravenously at 8 weeks of age with a lentiviral vector that expressed a codon-optimized human methylmalonyl coenzyme A mutase transgene, HIV-1SDmEF1αmurSigHutMCM. Untreated Mut(-/-)MUT(h2) and normal mice were used as controls. HIV-1SDmEF1αmurSigHutMCM-treated mice achieved near-normal weight for age, and Western blot analysis demonstrated significant methylmalonyl coenzyme A enzyme expression in their livers. Normalization of liver methylmalonyl coenzyme A enzyme activity in the treated group was associated with a reduction in plasma and urine methylmalonic acid levels, and a reduction in the hepatic methylmalonic acid concentration. Administration of the HIV-1SDmEF1αmurSigHutMCM vector provided significant, although incomplete, biochemical correction of methylmalonic aciduria in a mouse model, suggesting that gene therapy is a potential treatment for this disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / blood
  • Amino Acid Metabolism, Inborn Errors / therapy*
  • Amino Acid Metabolism, Inborn Errors / urine
  • Animals
  • Codon
  • Female
  • Gene Expression
  • Genetic Engineering
  • Genetic Therapy*
  • Genetic Vectors
  • HEK293 Cells
  • Humans
  • Lentivirus / genetics*
  • Liver / enzymology
  • Male
  • Methylmalonic Acid / blood
  • Methylmalonic Acid / urine
  • Methylmalonyl-CoA Mutase / biosynthesis
  • Methylmalonyl-CoA Mutase / genetics*
  • Mice, Knockout

Substances

  • Codon
  • Methylmalonic Acid
  • Methylmalonyl-CoA Mutase

Supplementary concepts

  • Methylmalonic acidemia