Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector

Mol Ther. 2011 Nov;19(11):1961-70. doi: 10.1038/mt.2011.126. Epub 2011 Jul 5.

Abstract

Glycogen storage disease type Ia (GSD-Ia) is caused by the deficiency of glucose-6-phosphatase (G6Pase). Long-term complications of GSD-Ia include life-threatening hypoglycemia and proteinuria progressing to renal failure. A double-stranded (ds) adeno-associated virus serotype 2 (AAV2) vector encoding human G6Pase was pseudotyped with four serotypes, AAV2, AAV7, AAV8, and AAV9, and we evaluated efficacy in 12-day-old G6pase (-/-) mice. Hypoglycemia during fasting (plasma glucose <100 mg/dl) was prevented for >6 months by the dsAAV2/7, dsAAV2/8, and dsAAV2/9 vectors. Prolonged fasting for 8 hours revealed normalization of blood glucose following dsAAV2/9 vector administration at the higher dose. The glycogen content of kidney was reduced by >65% with both the dsAAV2/7 and dsAAV2/9 vectors, and renal glycogen content was stably reduced between 7 and 12 months of age for the dsAAV2/9 vector-treated mice. Every vector-treated group had significantly reduced glycogen content in the liver, in comparison with untreated G6pase (-/-) mice. G6Pase was expressed in many renal epithelial cells of with the dsAAV2/9 vector for up to 12 months. Albuminuria and renal fibrosis were reduced by the dsAAV2/9 vector. Hepatorenal correction in G6pase (-/-) mice demonstrates the potential of AAV vectors for the correction of inherited diseases of metabolism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Dependovirus / genetics*
  • Disease Models, Animal
  • Female
  • Gene Expression Regulation
  • Genetic Therapy*
  • Genetic Vectors / administration & dosage
  • Genetic Vectors / genetics*
  • Glucose-6-Phosphatase / genetics*
  • Glycogen Storage Disease Type I / genetics
  • Glycogen Storage Disease Type I / mortality
  • Glycogen Storage Disease Type I / therapy*
  • Humans
  • Hypoglycemia / genetics
  • Hypoglycemia / therapy
  • Kaplan-Meier Estimate
  • Kidney / metabolism
  • Liver / metabolism
  • Male
  • Mice
  • Mice, Knockout

Substances

  • Glucose-6-Phosphatase