Molecular Medicine Israel

What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer

Somatic mutations in genes encoding isocitrate dehydrogenase isoforms IDH1 and IDH2 have recently been found in 50–80% of human low-grade gliomas, whereas somatic mutations in IDH2 are found in ~10% of acute myeloid leukemias (AMLs). These mutations are unique to cancer and were discovered in William kaelin, Jr laboratory at Harvard (Review in Genes Dev. and in Cell ).

New studies show that these mutations can drive tumors (Turcan et al, Nature) and inhibitors of these isocitrate dehydrogenase mutant proteins can reverse the oncogenic phenotype (Mellingoff et al., Science; Losman et al., Science ; Nature Genetics ).

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