Malignant gliomas are heterogeneous tumors, mostly incurable, arising in the central nervous system (CNS) driven by genetic, epigenetic, and metabolic aberrations. Mutations in isocitrate dehydrogenase (IDH1/2) enzymes are predominantly found in low-grade gliomas and secondary high-grade gliomas, with IDH1 mutations being more prevalent.

Malignant gliomas are heterogeneous tumors, mostly incurable, arising in the central nervous system (CNS) driven by genetic, epigenetic, and metabolic aberrations. Mutations in isocitrate dehydrogenase (IDH1/2) enzymes are predominantly found in low-grade gliomas and secondary high-grade gliomas, with IDH1 mutations being more prevalent.

2025年1月16日 · 推荐一篇发表在PNAS上的文章，题目为“Oncogenic IDH1mut drives robust loss of histone acetylation and increases chromatin heterogeneity”，通讯作者是来自以色列 魏茨曼科学研究所 的Efrat Shema教授，研究方向主要是开发单细胞技术分析癌症组织中的表观遗传学。

2025年1月7日 · Mutations in isocitrate dehydrogenase (IDH1/2 mut) enzymes are predominantly found in low-grade gliomas and secondary high-grade gliomas, with IDH1 mutations being more prevalent.

2023年5月1日 · Dr. Shema’s research focuses on understanding human genome regulation by development and application of novel single-molecule-based technologies to visualize the epigenome. She received her BSc degree from the Hebrew University of Jerusalem and her PhD from the Weizmann Institute.

Mutations in the metabolic enzyme isocitrate dehydrogenase (IDH1) are frequent and considered early events in a subset of adult gliomas. The mutant IDH1 enzyme changes functionally, favoring the production of the oncometabolite 2-hydroxyglutarate, and …

2024年12月30日 · Mutations in isocitrate dehydrogenase (IDH1/2mut) enzymes are predominantly found in low- grade gliomas and secondary high- grade gliomas, with IDH1 mutations being more prevalent.

Isocitrate dehydrogenase (IDH1/2) enzymes are frequently mutated in adult gliomas, and their mutation status is currently used for CNS tumor classification. We combine multiple methodologies to explore the tight interaction between chromatin regulation and …

【解释】： IDH1和IDH2编码异柠檬酸脱氢酶1和2，催化异柠檬酸氧化脱羧成ɑ-酮戊二酸（α-KG） ，IDH1/2是人类癌症中代谢基因（metabolic genes）发生突变频率最高的，并干扰细胞新陈代谢和表观遗传调控，从而促进肿瘤发生。 IDH1/IDH2病理作用. 新发急性髓系白血病 （AML）中， IDH1/2突变患者多为正常核型、年龄偏大，伴NPM1突变。 IDH2 R140Q突变更多见，对生存影响不大或有利于生存，而IDH2 R172K突变则与预后差相关（生存减少、更高复发率）。 IDH1/2 …

2023年1月2日 · 异柠檬酸脱氢酶（isocitrate dehydrogenase，IDH）是三羧酸循环中催化异柠檬酸转化为α-酮戊二酸（α-KG）的关键代谢酶，也是急性髓细胞白血病（acute myeloidleukemia，AML）中突变最为频繁的肿瘤代谢基因（~20%）。异柠檬酸脱氢酶突变会催化α-酮戊二酸产生立体异构的