Screen for IDH1, IDH2, IDH3, D2HGDH and l2HGDH mutations in glioblastoma

PLoS ONE

Volumn 6, Issue 5, 2011, Pages

  Krell, Daniel ^a,b   Assoku, Mawuelikem ^a,b   Galloway, Malcolm ^c   Mulholland, Paul ^b   Tomlinson, Ian ^a   Bardella, Chiara ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^c ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DEXTRO 2 HYDROXYGLUTARATE DEHYDROGENASE; HISTIDINE; ISOCITRATE DEHYDROGENASE; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 3; ISOCITRATE DEHYDROGENASE ISOENZYME; LEVO 2 HYDROXYGLUTARATE DEHYDROGENASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG; ALCOHOL DEHYDROGENASE; D2HGDH PROTEIN, HUMAN; DNA; IDH1 PROTEIN, HUMAN; ISOCITRATE DEHYDROGENASE 2, HUMAN; L2HGDH PROTEIN, HUMAN;

ARTICLE; CARCINOGENESIS; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME LOCALIZATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GLIOBLASTOMA; LOSS OF FUNCTION MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; BRAIN TUMOR; ENZYME IMMUNOASSAY; GENETICS; HUMAN; METABOLISM; MUTATION; POLYMERASE CHAIN REACTION;

ALCOHOL OXIDOREDUCTASES; BRAIN NEOPLASMS; DNA, NEOPLASM; GLIOBLASTOMA; HUMANS; IMMUNOENZYME TECHNIQUES; ISOCITRATE DEHYDROGENASE; MUTATION; POLYMERASE CHAIN REACTION;

EID: 79956372800     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0019868     Document Type: Article

References (24)

1. Ohgaki H, (2009) Epidemiology of brain tumours. Methods Mol Biol 472: 323-342.
2. Wen PY, Kesari S, (2008) Malignant gliomas in adults. N Engl J Med 359: 492-507.
3. Xu X, Zhao J, Xu Z, Peng B, Huang Q, et al. (2004) Structures of human cytosolic NADP-dependent isocitrate dehydrogenase reveal a novel self-regulatory mechanism of activity. J Biol Chem 279: 33946-33957.
4. Reitman ZJ, Yan H, (2010) Isocitrate dehydrogenase 1 and 2 mutations in cancer: alterations at a crossroads of cellular metabolism. J Natl Cancer Inst 102: 932-941.
5. Haselbeck RJ, McAlister-Henn L, (1993) Function and expression of yeast mitochondrial NAD- and NADP-specific isocitrate dehydrogenases. J Biol Chem 268: 12116-12122.
6. Joseph JW, Jensen MV, Ilkayeva O, Palmieri F, Alarcon C, et al. (2006) The mitochondrial citrate/isocitrate carrier plays a regulatory role in glucose-stimulated insulin secretion. J Biol Chem 281: 35624-35632.
7. Minard KI, McAlister-Henn L, (1999) Dependence of peroxisomal beta-oxidation on cytosolic sources of NADPH. J Biol Chem 274: 3402-3406.
8. Lee SM, Park SY, Shin SW, Kil IS, Yang ES, et al. (2009) Silencing of cytosolic NADP(+)-dependent isocitrate dehydrogenase by small interfering RNA enhances the sensitivity of HeLa cells toward staurosporine. Free Radic Res 43: 165-173.
9. Lee SH, Jo SH, Lee SM, Koh HJ, Song H, et al. (2004) Role of NADP+-dependent isocitrate dehydrogenase (NADP+-ICDH) on cellular defence against oxidative injury by gamma-rays. Int J Radiat Biol 80: 635-642.
10. Kil IS, Kim SY, Lee SJ, Park JW, (2007) Small interfering RNA-mediated silencing of mitochondrial NADP+-dependent isocitrate dehydrogenase enhances the sensitivity of HeLa cells toward tumour necrosis factor-alpha and anticancer drugs. Free Radic Biol Med 43: 1197-1207.
11. Yang ES, Park JW, (2009) Regulation of ethanol-induced toxicity by mitochondrial NADP(+)-dependent isocitrate dehydrogenase. Biochimie 91: 1020-1028.
12. Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, et al. (2008) An integrated genomic analysis of human glioblastoma multiforme. Science 321: 1807-1812.
13. Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, et al. (2009) IDH1 and IDH2 mutations in gliomas. N Engl J Med 360: 765-773.
14. Kloosterhof NK, Bralten LB, Dubbink HJ, French PJ, van den Bent MJ, (2010) Isocitrate dehydrogenase-1 mutations: a fundamentally new understanding of diffuse glioma? Lancet Oncol.
15. Hartmann C, Meyer J, Balss J, Capper D, Mueller W, et al. (2009) Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas. Acta Neuropathol 118: 469-474.
16. Ward PS, Patel J, Wise DR, Abdel-Wahab O, Bennett BD, et al. (2010) The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell 17: 225-234.
17. Zhao S, Lin Y, Xu W, Jiang W, Zha Z, et al. (2009) Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha. Science 324: 261-265.
18. Ichimura K, Pearson DM, Kocialkowski S, Backlund LM, Chan R, et al. (2009) IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas. Neuro Oncol 11: 341-347.
19. Dang L, White DW, Gross S, Bennett BD, Bittinger MA, et al. (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462: 739-744.
20. Gross S, Cairns RA, Minden MD, Driggers EM, Bittinger MA, et al. (2010) Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations. J Exp Med 207: 339-344.
21. Figueroa ME, Abdel-Wahab O, Lu C, Ward PS, Patel J, et al. (2010) Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell 18: 553-567.
22. Xu W, Yang H, Liu Y, Yang Y, Wang P, et al. (2011) Oncometabolite 2-Hydroxyglutarate Is a Competitive Inhibitor of alpha-Ketoglutarate-Dependent Dioxygenases. Cancer Cell 19: 17-30.
23. Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, et al. (2010) IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science 330: 336.
24. Dang L, Jin S, Su SM, (2010) IDH mutations in glioma and acute myeloid leukemia. Trends Mol Med 16: 387-397.