Biocenter Oulu, Department of Medical Biochemistry and Molecular Biology, Oulu Center for Cell-Matrix Research, University of Oulu, FIN-90014 Oulu, Finland.
Nature. 2012 Feb 15;483(7390):484-8. doi: 10.1038/nature10898.
The identification of succinate dehydrogenase (SDH), fumarate hydratase (FH) and isocitrate dehydrogenase (IDH) mutations in human cancers has rekindled the idea that altered cellular metabolism can transform cells. Inactivating SDH and FH mutations cause the accumulation of succinate and fumarate, respectively, which can inhibit 2-oxoglutarate (2-OG)-dependent enzymes, including the EGLN prolyl 4-hydroxylases that mark the hypoxia inducible factor (HIF) transcription factor for polyubiquitylation and proteasomal degradation. Inappropriate HIF activation is suspected of contributing to the pathogenesis of SDH-defective and FH-defective tumours but can suppress tumour growth in some other contexts. IDH1 and IDH2, which catalyse the interconversion of isocitrate and 2-OG, are frequently mutated in human brain tumours and leukaemias. The resulting mutants have the neomorphic ability to convert 2-OG to the (R)-enantiomer of 2-hydroxyglutarate ((R)-2HG). Here we show that (R)-2HG, but not (S)-2HG, stimulates EGLN activity, leading to diminished HIF levels, which enhances the proliferation and soft agar growth of human astrocytes. These findings define an enantiomer-specific mechanism by which the (R)-2HG that accumulates in IDH mutant brain tumours promotes transformation and provide a justification for exploring EGLN inhibition as a potential treatment strategy.
琥珀酸脱氢酶(SDH)、富马酸水合酶(FH)和异柠檬酸脱氢酶(IDH)突变在人类癌症中的鉴定重新点燃了这样一种观点,即改变细胞代谢可以使细胞发生转化。SDH 和 FH 失活突变分别导致琥珀酸和富马酸的积累,这两种物质可以抑制 2-氧戊二酸(2-OG)依赖性酶,包括 EGLN 脯氨酰 4-羟化酶,后者标记缺氧诱导因子(HIF)转录因子进行多泛素化和蛋白酶体降解。SDH 缺陷和 FH 缺陷肿瘤中异常的 HIF 激活被怀疑有助于其发病机制,但在某些其他情况下可以抑制肿瘤生长。催化异柠檬酸和 2-OG 相互转化的 IDH1 和 IDH2 经常在人类脑肿瘤和白血病中发生突变。由此产生的突变体具有将 2-OG 转化为(R)-2-羟基戊二酸((R)-2HG)的新功能。在这里,我们表明(R)-2HG 而不是(S)-2HG 刺激 EGLN 活性,导致 HIF 水平降低,从而增强人星形胶质细胞的增殖和软琼脂生长。这些发现定义了一种手性特异性机制,即在 IDH 突变脑肿瘤中积累的(R)-2HG 促进转化,并为探索 EGLN 抑制作为潜在治疗策略提供了依据。
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