IDH1基因所编码的蛋白名为异柠檬酸脱氢酶1,人类IDH有三种类型,分别为IDH1、IDH2和IDH3,IDH1定位与细胞质和过氧化物酶体中,IDH2和IDH3定位与线粒体中。该类蛋白酶可以将异柠檬酸氧化为草酰琥珀酸,然后在转化为α-酮戊二酸。最先研究发现IDH1的突变与脑胶质瘤密切相关,之后又发现其突变与前列腺、副神经节瘤以及IDH1/2突变与急性髓细胞白血病相关。其致瘤机制为突变的IDH能将α-酮戊二酸转化为2-羟戊二酸,且后者可以抑制前者的靶点,导致这些靶点表达异常引发癌症。

基因名:IDH1
别名:HEL-216,HEL-S-26,IDCD,IDH,IDP,IDPC,PICD
基因ID:3417
Chromosome:
(GRCh37)
2 Start: 209100951 End: 209130798 Strand: -1
药物: 艾伏尼布/依维替尼  AGI-5198  BAY 1436032 贝伐单抗,贝伐珠单抗  Bis-2-[5-(phenylacetamide)-1 帕纳替尼/普纳替尼/波纳替尼  4-thiadiazol-2-yl]ethyl Sulfide Bis-2-(5-phenylacetamido-1 盐酸盐和曲氟尿苷复方片  4-thiadiazol-2-yl)ethyl Sulfide 西妥昔单抗  达沙替尼  GSK321  艾伏尼布/依维替尼  奥拉帕利,奥拉帕尼  替莫唑胺 
IDH1 基因突变与药物
IDH1 基因突变 R132H
Allele Registry ID:CA170874别名:ARG132HIS,RS121913500
ClinVar ID:156444

在许多癌症类型中观察到IDH1R132突变,并且在不同的环境中表现出很大的不同。在骨髓增生异常综合征和急性髓性白血病(AML)中,IDH1 R132突变与更差的预后和更短的总生存期相关。他们也与细胞遗传学上正常的AML有关,AML是该病的一种中等风险亚型。然而,在胶质母细胞瘤和星形细胞瘤中,idh1突变患者的总生存率高于野生型idh1患者。与AML相比,在胶质母细胞瘤中,idh1突变与特异性细胞遗传学异常、1p和19q缺失有关。
IDH1 R132 mutations have been observed in a number of cancer types, and appear to behave quite differently in different environments. In myelodysplastic syndromes and acute myeloid leukemia (AML), IDH1 R132 mutations have been shown to be associated with worse outcome and shorter overall survival. They have also been linked to cytogenetically normal AML, an intermediate risk subtype of the disease. However, in glioblastoma and astrocytoma, patients with IDH1 mutations have shown better overall survival than patients with wild-type IDH1. Also in contrast to AML, in glioblastoma, IDH1 mutations have been associated with the specific cytogenetic abnormalities, 1p and 19q deletions.

基因突变位点
Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
2209113112209113112CT
Transcript
ENST00000415913.1
基因序列
NM_001282386.1:c.395G>003eA
NP_005887.2:p.Arg132His
NC_000002.11:g.209113112C>003eT
ENST00000415913.1:c.395G>003eA