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1.	Aswad, H, et al. (author) Exosomes participate in the alteration of muscle homeostasis during lipid-induced insulin resistance in mice 2014 In: Diabetologia. - : Springer Science and Business Media LLC. - 1432-0428 .- 0012-186X. ; 57:10, s. 2155-2164 Journal article (peer-reviewed)
2.	Geoerger, B., et al. (author) Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutation 2023 In: Nature Medicine. - 1078-8956. ; 29:6 Journal article (peer-reviewed)abstract D-2-hydroxyglutaric aciduria type II (D2HGA2) is a severe inborn disorder of metabolism caused by heterozygous R140 mutations in the IDH2 (isocitrate dehydrogenase 2) gene. Here we report the results of treatment of two children with D2HGA2, one of whom exhibited severe dilated cardiomyopathy, with the selective mutant IDH2 enzyme inhibitor enasidenib. In both children, enasidenib treatment led to normalization of D-2-hydroxyglutarate (D-2-HG) concentrations in body fluids. At doses of 50 mg and 60 mg per day, no side effects were observed, except for asymptomatic hyperbilirubinemia. For the child with cardiomyopathy, chronic D-2-HG inhibition was associated with improved cardiac function, and for both children, therapy was associated with improved daily functioning, global motility and social interactions. Treatment of the child with cardiomyopathy led to therapy-coordinated changes in serum phospholipid levels, which were partly recapitulated in cultured fibroblasts, associated with complex effects on lipid and redox-related gene pathways. These findings indicate that targeted inhibition of a mutant enzyme can partly reverse the pathology of a chronic neurometabolic genetic disorder. In a study of two children with the metabolic condition D-2-hydroxyglutaric aciduria type II, the drug enasidenib, developed as a selective mutant IDH2 inhibitor for treatment of acute myeloid leukemia, had beneficial effects on cardiac and neurodevelopmental abnormalities, indicating the potential for the repurposing of this drug for this hereditary condition.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Lamaziere, A (2); EL-Andaloussi, S (1); Darin, Niklas, 1964 (1); Aswad, H (1); Forterre, A (1); Wiklander, OPB (1); show more...; Vial, G (1); Danty-Berger, E (1); Jalabert, A (1); Meugnier, E (1); Pesenti, S (1); Ott, C (1); Chikh, K (1); Vidal, H (1); Lefai, E (1); Rieusset, J (1); Rome, S (1); Schiff, M (1); Berlanga, P (1); De Botton, S (1); Pontoizeau, C (1); Geoerger, B (1); Penard-Lacronique, V ... (1); Saad, S. M. (1); Duchon, C. (1); Desmons, A. (1); Ducassou, S. (1); Yen, K. (1); Su, M. (1); Schenkein, D. (1); Ottolenghi, C. (1); show less...

University: University of Gothenburg (1); Karolinska Institutet (1)

Language: English (2)

Research subject (UKÄ/SCB): Natural sciences (1)

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