Gene induction for the treatment of methylmalonic aciduria
Ruimei Hu, Nicole E Buck, Mahmoud S Khaniani, Leonie Wood, Hady Wardan, Jean-Francois Benoist, Lingli Li, Jim Vadolas, Joseph P Sarsero, Panos A Ioannou, Heidi L Peters
JOURNAL OF GENE MEDICINE | WILEY | Published : 2009
BACKGROUND: Methylmalonic aciduria is an autosomal recessive inborn error of the propionate metabolic pathway. One form of this disorder is caused by mutations in methylmalonyl-coenzyme A mutase (MCM), resulting in reduced levels of enzyme activity. The pharmacological up-regulation of residual mutase activity is one approach to advance treatment strategies for individuals affected by this disorder. We describe the construction, characterization and use of a cellular genomic reporter assay for MCM expression that will potentially identify therapeutic pharmacological agents for methylmalonic aciduria treatment. METHODS: Homologous recombination was used to insert an enhanced green fluorescent..View full abstract
Panos Ioannou passed away in April 2005. The authors wish to thank Dr Matthew Burton for flow cytometry assistance. This work was supported by funding from the Murdoch Childrens Research Institute. H.L.P. is the recipient of an NHRMC Clinical Career Development Award.