Strategies to rescue the consequences of inducible arginase-1 deficiency in mice

PLoS One. 2015 May 4;10(5):e0125967. doi: 10.1371/journal.pone.0125967. eCollection 2015.

Abstract

Arginase-1 catalyzes the conversion of arginine to ornithine and urea, which is the final step of the urea cycle used to remove excess ammonia from the body. Arginase-1 deficiency leads to hyperargininemia in mice and man with severe lethal consequences in the former and progressive neurological impairment to varying degrees in the latter. In a tamoxifen-induced arginase-1 deficient mouse model, mice succumb to the enzyme deficiency within 2 weeks after inducing the knockout and retain <2 % enzyme in the liver. Standard clinical care regimens for arginase-1 deficiency (low-protein diet, the nitrogen-scavenging drug sodium phenylbutyrate, ornithine supplementation) either failed to extend lifespan (ornithine) or only minimally prolonged lifespan (maximum 8 days with low-protein diet and drug). A conditional, tamoxifen-inducible arginase-1 transgenic mouse strain expressing the enzyme from the Rosa26 locus modestly extended lifespan of neonatal mice, but not that of 4-week old mice, when crossed to the inducible arginase-1 knockout mouse strain. Delivery of an arginase-1/enhanced green fluorescent fusion construct by adeno-associated viral delivery (rh10 serotype with a strong cytomegalovirus-chicken β-actin hybrid promoter) rescued about 30% of male mice with lifespan prolongation to at least 6 months, extensive hepatic expression and restoration of significant enzyme activity in liver. In contrast, a vector of the AAV8 serotype driven by the thyroxine-binding globulin promoter led to weaker liver expression and did not rescue arginase-1 deficient mice to any great extent. Since the induced arginase-1 deficient mouse model displays a much more severe phenotype when compared to human arginase-1 deficiency, these studies reveal that it may be feasible with gene therapy strategies to correct the various manifestations of the disorder and they provide optimism for future clinical studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Arginase / genetics*
  • Arginase / metabolism
  • Dependovirus / genetics
  • Diet, Protein-Restricted
  • Dietary Supplements
  • Female
  • Gene Expression
  • Gene Targeting
  • Genes, Lethal
  • Genes, Reporter
  • Genetic Loci
  • Genetic Vectors / genetics
  • Longevity
  • Male
  • Mice
  • Mice, Knockout
  • Ornithine / administration & dosage
  • Ornithine / blood
  • Phenotype
  • RNA, Untranslated / genetics
  • Transduction, Genetic
  • Transgenes

Substances

  • Gt(ROSA)26Sor non-coding RNA, mouse
  • RNA, Untranslated
  • Ornithine
  • Arg1 protein, mouse
  • Arginase

Grants and funding

CDF holds a Tier I Canada Research Chair in Molecular, Cellular and Physiological Medicine. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.