Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice

Hum Mol Genet. 2013 Jul 15;22(14):2929-40. doi: 10.1093/hmg/ddt148. Epub 2013 Apr 5.

Abstract

Acute intermittent porphyria (AIP) is a hepatic metabolic disease that results from haplo-insufficient activity of porphobilinogen deaminase (PBGD). The dominant clinical feature is acute intermittent attacks when hepatic heme synthesis is activated by endocrine or exogenous factors. Gene therapy vectors over-expressing PBGD protein in the liver offers potential as a cure for AIP. Here, we developed a helper-dependent adenovirus (HDA) encoding human PBGD (hPBGD) and assessed its therapeutic efficacy in a murine model of AIP. Intravenous or intrahepatic administration of HDA-hPBGD to AIP mice resulted in a sustained hepatic hPBGD expression in a dose-dependent manner. Intrahepatic administration conveyed full protection against induced porphyria attacks at a significantly lower viral dose than intravenous injection. Transgenic hPBGD accumulated only in the cytosol of hepatocytes as the endogenous protein. Characterization of PBGD-deficient mouse strains revealed that a strong PBGD deficiency causes the chronic disturbance of cytosolic and endoplasmic reticulum folding machineries. This disturbance was completely restored over time by the over-expression of hPBGD. HDA-hPBGD is a promising vector that protects against porphyria attacks and resolves the chronic folding stress associated with low levels of PBGD activity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoviridae / genetics*
  • Adenoviridae / physiology
  • Animals
  • Disease Models, Animal
  • Female
  • Genetic Therapy*
  • Genetic Vectors / genetics
  • Genetic Vectors / physiology
  • Hepatocytes / enzymology
  • Hepatocytes / virology
  • Humans
  • Hydroxymethylbilane Synthase / genetics*
  • Hydroxymethylbilane Synthase / metabolism
  • Liver / enzymology
  • Liver / virology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Porphyria, Acute Intermittent / enzymology
  • Porphyria, Acute Intermittent / genetics*
  • Porphyria, Acute Intermittent / prevention & control
  • Porphyria, Acute Intermittent / therapy*
  • Protein Folding

Substances

  • Hydroxymethylbilane Synthase