Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice

Mol Ther. 2012 Feb;20(2):254-66. doi: 10.1038/mt.2011.220. Epub 2011 Oct 18.

Abstract

Mucopolysaccharidosis type IIIA (MPSIIIA) is an inherited lysosomal storage disease caused by deficiency of sulfamidase, resulting in accumulation of the glycosaminoglycan (GAG) heparan sulfate. It is characterized by severe progressive neurodegeneration, together with somatic alterations, which lead to death during adolescence. Here, we tested the ability of adeno-associated virus (AAV) vector-mediated genetic modification of either skeletal muscle or liver to revert the already established disease phenotype of 2-month-old MPSIIIA males and females. Intramuscular administration of AAV-Sulfamidase failed to achieve significant therapeutic benefit in either gender. In contrast, AAV8-mediated liver-directed gene transfer achieved high and sustained levels of circulating active sulfamidase, which reached normal levels in females and was fourfold higher in males, and completely corrected lysosomal GAG accumulation in most somatic tissues. Remarkably, a 50% reduction of GAG accumulation was achieved throughout the entire brain of males, which correlated with a partial improvement of the pathology of cerebellum and cortex. Liver-directed gene transfer expanded the lifespan of MPSIIIA males, underscoring the importance of reaching supraphysiological plasma levels of enzyme for maximal therapeutic benefit. These results show how liver-directed gene transfer can reverse somatic and ameliorate neurological pathology in MPSIIIA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Central Nervous System / pathology*
  • Cerebellum / ultrastructure
  • Dependovirus / genetics
  • Disease Models, Animal
  • Female
  • Gene Order
  • Gene Transfer Techniques
  • Genetic Therapy*
  • Genetic Vectors / administration & dosage
  • Genetic Vectors / genetics
  • Genetic Vectors / pharmacokinetics
  • Hydrolases / genetics*
  • Hydrolases / metabolism
  • Injections, Intramuscular
  • Injections, Intravenous
  • Liver / metabolism*
  • Liver / ultrastructure
  • Lysosomes / pathology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mucopolysaccharidosis III / genetics
  • Mucopolysaccharidosis III / mortality
  • Mucopolysaccharidosis III / therapy*
  • Muscle, Skeletal / metabolism
  • Survival Analysis
  • Transduction, Genetic
  • Visual Cortex / pathology
  • Visual Cortex / ultrastructure

Substances

  • Hydrolases
  • N-sulfoglucosamine sulfohydrolase