Early gestational gene transfer with targeted ATP7B expression in the liver improves phenotype in a murine model of Wilson's disease

Gene Ther. 2012 Nov;19(11):1085-94. doi: 10.1038/gt.2011.186. Epub 2011 Dec 8.

Abstract

The ideal gene therapy for metabolical liver disorders would target hepatocytes before the onset of disease and be durable, non-toxic and non-immunogenic. Early gestational gene transfer can achieve such goals. Here, we demonstrate that prenatal gene transfer of human Atp7b reduces liver pathology and improves biochemical markers in Atp7b(-/-) mice, a murine model of Wilson's disease (WD). Following prenatal injection of lentivirus vector containing the human Atp7b gene under the transcriptional control of a liver-specific promoter, the full-length ATP7B was detectable in mouse livers for the entire duration of experiments (20 weeks after birth). In contrast to a marked pathology in non-injected animals, livers from age-matched treated mice consistently demonstrated normal gross and histological morphology. Hepatic copper content was decreased in the majority of treated mice, although remaining copper levels varied. Improvement of hepatic copper metabolism was further apparent from the presence of copper-bound ceruloplasmin in the sera and normalization of the mRNA levels for HMG CoA-reductase. With this approach, the complete loss of copper transport function can be ameliorated, as evident from phenotypical improvement in treated Atp7b(-/-) mice. This study provides proof of principle for in utero gene therapy in WD and other liver-based enzyme deficiencies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adenosine Triphosphatases / metabolism
  • Animals
  • Biological Transport
  • Cation Transport Proteins / genetics*
  • Cation Transport Proteins / metabolism
  • Ceruloplasmin / metabolism
  • Copper / metabolism
  • Copper-Transporting ATPases
  • Disease Models, Animal
  • Female
  • Gene Expression*
  • Gene Transfer Techniques*
  • Genes, Reporter
  • Genetic Therapy
  • Genetic Vectors / administration & dosage
  • Genetic Vectors / genetics
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / metabolism
  • Hepatolenticular Degeneration / therapy
  • Humans
  • Hydroxymethylglutaryl CoA Reductases / genetics
  • Hydroxymethylglutaryl CoA Reductases / metabolism
  • Injections
  • Liver / metabolism*
  • Liver Function Tests
  • Male
  • Mice
  • Mice, Knockout
  • Organ Specificity / genetics
  • Phenotype*
  • Protein Binding

Substances

  • Cation Transport Proteins
  • Copper
  • Hydroxymethylglutaryl CoA Reductases
  • Ceruloplasmin
  • Adenosine Triphosphatases
  • ATP7B protein, human
  • Copper-Transporting ATPases