[HTML][HTML] A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model

F Wang, J Travins, Z Lin, Y Si, Y Chen, J Powe… - Journal of Inherited …, 2016 - Springer
F Wang, J Travins, Z Lin, Y Si, Y Chen, J Powe, S Murray, D Zhu, E Artin, S Gross
Journal of Inherited Metabolic Disease, 2016Springer
Abstract D-2-hydroxyglutaric aciduria (D2HGA) type II is a rare neurometabolic disorder
caused by germline gain-of-function mutations in isocitrate dehydrogenase 2 (IDH2),
resulting in accumulation of D-2-hydroxyglutarate (D2HG). Patients exhibit a wide spectrum
of symptoms including cardiomyopathy, epilepsy, developmental delay and limited life span.
Currently, there are no effective therapeutic interventions. We generated a D2HGA type II
mouse model by introducing the Idh2R140Q mutation at the native chromosomal locus …
Abstract
D-2-hydroxyglutaric aciduria (D2HGA) type II is a rare neurometabolic disorder caused by germline gain-of-function mutations in isocitrate dehydrogenase 2 (IDH2), resulting in accumulation of D-2-hydroxyglutarate (D2HG). Patients exhibit a wide spectrum of symptoms including cardiomyopathy, epilepsy, developmental delay and limited life span. Currently, there are no effective therapeutic interventions. We generated a D2HGA type II mouse model by introducing the Idh2R140Q mutation at the native chromosomal locus. Idh2R140Q mice displayed significantly elevated 2HG levels and recapitulated multiple defects seen in patients. AGI-026, a potent, selective inhibitor of the human IDH2R140Q-mutant enzyme, suppressed 2HG production, rescued cardiomyopathy, and provided a survival benefit in Idh2R140Q mice; treatment withdrawal resulted in deterioration of cardiac function. We observed differential expression of multiple genes and metabolites that are associated with cardiomyopathy, which were largely reversed by AGI-026. These findings demonstrate the potential therapeutic benefit of an IDH2R140Q inhibitor in patients with D2HGA type II.
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