Treatment of lysosomal storage disease in MPS VII mice using a recombinant adeno-associated virus

Gene Ther. 1998 Dec;5(12):1642-9. doi: 10.1038/sj.gt.3300775.

Abstract

Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by a genetic deficiency of beta-glucuronidase (GUS). We used a recombinant adeno-associated virus vector (AAV-GUS) to deliver GUS cDNA to MPS VII mice. The route of vector administration had a dramatic effect on the extent and distribution of GUS activity. Intramuscular injection of AAV-GUS resulted in high, localized production of GUS, while intravenous administration produced low GUS activity in several tissues. This latter treatment of MPS VII mice reduced glycosaminoglycan levels in the liver to normal and reduced storage granules dramatically. We show that a single administration of AAV-GUS can provide sustained expression of GUS in a variety of cell types and is sufficient to reverse the disease phenotype at least in the liver.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Dependovirus*
  • Gene Transfer Techniques*
  • Genetic Therapy / methods*
  • Genetic Vectors / administration & dosage*
  • Genetic Vectors / immunology
  • Glucuronidase / biosynthesis
  • Glucuronidase / genetics*
  • Glucuronidase / immunology
  • Injections, Intramuscular
  • Injections, Intravenous
  • Liver / enzymology
  • Mice
  • Mice, Mutant Strains
  • Mucopolysaccharidosis VII / enzymology
  • Mucopolysaccharidosis VII / immunology
  • Mucopolysaccharidosis VII / therapy*

Substances

  • Glucuronidase