Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer

Gene Ther. 2007 Mar;14(5):405-14. doi: 10.1038/sj.gt.3302883. Epub 2006 Nov 9.

Abstract

Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by genetic deficiency of arylsulfatase A (ARSA) enzyme. Failure in catalyzing the degradation of its major substrate, sulfatide (Sulf), in oligodendrocytes and Schwann cells leads to severe demyelination in the peripheral (PNS) and central nervous system (CNS), and early death of MLD patients. The ARSA knockout mice develop a disease that resembles MLD but is milder, without significant demyelination in the PNS and CNS. We showed that adeno-associated virus serotype 5-mediated gene transfer in the brain of ARSA knockout mice reverses Sulf storage and prevents neuropathological abnormalities and neuromotor disabilities when vector injections are performed at a pre-symptomatic stage of disease. Direct injection of viral particles into the brain of ARSA knockout mice at a symptomatic stage results in sustained expression of ARSA, prevention of Sulf storage and neuropathological abnormalities. Despite these significant corrections, the treated mice continue to develop neuromotor disability. We show that more subtle biochemical abnormalities involving gangliosides and galactocerebroside are in fact not corrected.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / enzymology*
  • Brain Chemistry
  • Cerebroside-Sulfatase / genetics
  • Cerebroside-Sulfatase / metabolism
  • Dependovirus / genetics*
  • Disease Models, Animal
  • Galactosylceramides / analysis
  • Galactosylceramides / metabolism
  • Gangliosides / analysis
  • Gangliosides / metabolism
  • Genetic Therapy / methods*
  • Genetic Vectors / administration & dosage*
  • Genetic Vectors / genetics
  • Immunohistochemistry
  • Injections
  • Leukodystrophy, Metachromatic / enzymology
  • Leukodystrophy, Metachromatic / therapy*
  • Mice
  • Mice, Knockout
  • Mice, Mutant Strains
  • Motor Activity
  • Transduction, Genetic / methods*
  • Treatment Failure

Substances

  • Galactosylceramides
  • Gangliosides
  • galactocerebroside
  • Cerebroside-Sulfatase