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. 2010 Oct 15;330(6002):336.
doi: 10.1126/science.1192632. Epub 2010 Sep 16.

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

Martijn Kranendijk  1 , Eduard A Struys, Emile van Schaftingen, K Michael Gibson, Warsha A Kanhai, Marjo S van der Knaap, Jeanne Amiel, Neil R Buist, Anibh M Das, Johannis B de Klerk, Annette S Feigenbaum, Dorothy K Grange, Floris C Hofstede, Elisabeth Holme, Edwin P Kirk, Stanley H Korman, Eva Morava, Andrew Morris, Jan Smeitink, Rám N Sukhai, Hilary Vallance, Cornelis Jakobs, Gajja S Salomons
Affiliations

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

Martijn Kranendijk et al. Science. .

Abstract

Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1 and -2 (IDH1 and IDH2) were recently discovered in human neoplastic disorders. These mutations disable the enzymes' normal ability to convert isocitrate to 2-ketoglutarate (2-KG) and confer on the enzymes a new function: the ability to convert 2-KG to d-2-hydroxyglutarate (D-2-HG). We have detected heterozygous germline mutations in IDH2 that alter enzyme residue Arg(140) in 15 unrelated patients with d-2-hydroxyglutaric aciduria (D-2-HGA), a rare neurometabolic disorder characterized by supraphysiological levels of D-2-HG. These findings provide additional impetus for investigating the role of D-2-HG in the pathophysiology of metabolic disease and cancer.

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