Thursday, August 29, 2013
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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
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.
Published online Aug. 29, 2013
Model unpatented; available
for licensing from the NIH
Contact: Tara Kirby, National
Institutes of Health, Bethesda, Md.
Manoli, I. et al. Proc.
Natl. Acad. Sci. USA; published online July 29, 2013;
Contact: Charles P. Venditti, National Institutes of Health,
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