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D-2-羟基戊二酸脱氢酶的新等位基因有助于在黑腹果蝇中研究肿瘤代谢物的功能。

New alleles of D-2-hydroxyglutarate dehydrogenase enable studies of oncometabolite function in Drosophila melanogaster.

作者信息

Rai Madhulika, Okah Prince, Shefali Shefali A, Fitt Alexander J, Shen Michael Z, Molomjamts Mandkhai, Pepin Robert, Nemkov Travis, D'Alessandro Angelo, Tennessen Jason M

机构信息

Department of Biology, Indiana University, Bloomington, IN 47405, USA.

Department of Chemistry, Indiana University, Bloomington, IN 47405, USA.

出版信息

G3 (Bethesda). 2025 Aug 6;15(8). doi: 10.1093/g3journal/jkaf132.

Abstract

D-2-hydroxyglutarate (D-2HG) is a potent oncometabolite capable of disrupting chromatin architecture, altering metabolism, and promoting cellular dedifferentiation. As a result, ectopic D-2HG accumulation induces neurometabolic disorders and promotes progression of multiple cancers. However, the disease-associated effects of ectopic D-2HG accumulation are dependent on genetic context. Specifically, neomorphic mutations in the mammalian genes Isocitrate dehydrogenase 1 (IDH1) and IDH2 result in the production of enzymes that inappropriately generate D-2HG from α-ketoglutarate (αKG). Within this genetic background, D-2HG acts as an oncometabolite and is associated with multiple cancers, including several diffuse gliomas. In contrast, loss-of-function mutations in the gene D-2-hydroxyglutarate dehydrogenase (D2hgdh) render cells unable to degrade D-2HG, resulting in excessive buildup of this molecule. D2hgdh mutations, however, are not generally associated with elevated cancer risk. This discrepancy raises the question as to why ectopic D-2HG accumulation in humans induces context-dependent disease outcomes. To enable such genetic studies in vivo, we generated 2 novel loss-of-function mutations in the Drosophila melanogaster gene D2hgdh and validated that these alleles result in ectopic D-2HG. Moreover, we observed that D2hgdh mutations induce developmental and metabolomic phenotypes indicative of elevated D-2HG accumulation. Overall, our efforts provide the Drosophila community with new mutant strains that can be used to study D-2HG function in human disease models as well as in the context of normal growth, metabolism, and physiology.

摘要

D-2-羟基戊二酸(D-2HG)是一种强效的致癌代谢物,能够破坏染色质结构、改变代谢并促进细胞去分化。因此,异位D-2HG积累会诱发神经代谢紊乱并促进多种癌症的进展。然而,异位D-2HG积累所产生的与疾病相关的影响取决于遗传背景。具体而言,哺乳动物异柠檬酸脱氢酶1(IDH1)和IDH2基因中的新形态突变会导致产生从α-酮戊二酸(αKG)不适当生成D-2HG的酶。在这种遗传背景下,D-2HG作为一种致癌代谢物,与多种癌症相关,包括几种弥漫性胶质瘤。相比之下,D-2-羟基戊二酸脱氢酶(D2hgdh)基因的功能丧失突变使细胞无法降解D-2HG,导致该分子过度积累。然而,D2hgdh突变通常与癌症风险升高无关。这种差异引发了一个问题,即为什么人类体内异位D-2HG积累会导致依赖于背景的疾病结果。为了在体内进行此类遗传研究,我们在果蝇基因D2hgdh中产生了2种新的功能丧失突变,并验证了这些等位基因会导致异位D-2HG。此外,我们观察到D2hgdh突变会诱导发育和代谢组学表型,表明D-2HG积累增加。总体而言,我们的工作为果蝇研究群体提供了新的突变株,可用于在人类疾病模型以及正常生长、代谢和生理背景下研究D-2HG的功能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dfd/12341949/b13444f2b725/jkaf132f1.jpg

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