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Mouse model of methylmalonic acidemia-associated renal pathology

A mouse model of methylmalonic acidemia-associated renal pathology could help identify new treatments for the condition, which is a metabolic disorder caused primarily by mutations in methylmalonyl CoA mutase (MUT). In this model, Mut knockout mice were engineered to express a liver-specific Mut transgene. The mice showed severe proximal tubular mitochondrial changes that recapitulate the renal pathology of methylmalonic acidemia seen in patient biopsy samples. In the mouse model, dietary supplementation with the antioxidants ubiquinone and vitamin E decreased weight loss compared with no supplementation and improved markers of renal function. Next steps include evaluating additional antioxidant compounds in the mice and then conducting a clinical trial in patients who have methylmalonic acidemia to evaluate the most effective compound.

SciBX 6(33); doi:10.1038/scibx.2013.907
Published online Aug. 29, 2013

Model unpatented; available for licensing from the NIH
Contact: Tara Kirby, National Institutes of Health, Bethesda, Md.
e-mail:
kirbyt@mail.nih.gov

Manoli, I. et al. Proc. Natl. Acad. Sci. USA; published online July 29, 2013;
doi:10.1073/pnas.1302764110
Contact: Charles P. Venditti, National Institutes of Health, Bethesda, Md.
e-mail:
venditti@mail.nih.gov