Heart response to isocitrate dehydrogenase 2 mutations IDH2R140Q and IDH2R172K
Summary:
Analysis of hearts from transgenics with conditionally-activated isocitrate dehydrogenase 2 mutant (IDH2) R140Q and R172K alleles. Mutant IDH2 causes cardiomyopathy and neurodegeneration. Results provide insight into molecular mechanisms underlying the cardiac defects associated with IDH2 mutations.
Akbay EA, Moslehi J, Christensen CL, Saha S et al. D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice. Genes Dev 2014 Mar 1;28(5):479-90. PMID: 24589777