Zytoplasmatische Isozitratdehydrogenase [NADP]
Das IDH1-Gen kodiert ein zytoplasmatisches Gen des Zitratstoffwechsels. Genetische Varianten sind mit der Neigung zu Gliomen vergesellschaftet.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Schnittger S et al. (2010) IDH1 mutations are detected in 6.6% of 1414 AML patients and are associated with intermediate risk karyotype and unfavorable prognosis in adults younger than 60 years and unmutated NPM1 status.
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2. |
Geisbrecht BV et al. (1999) The human PICD gene encodes a cytoplasmic and peroxisomal NADP(+)-dependent isocitrate dehydrogenase.
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3. |
Shechter I et al. (2003) IDH1 gene transcription is sterol regulated and activated by SREBP-1a and SREBP-2 in human hepatoma HepG2 cells: evidence that IDH1 may regulate lipogenesis in hepatic cells.
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4. |
None (1965) ISOZYMES OF ISOCITRATE DEHYDROGENASE: SUBUNIT STRUCTURE AND INTRACELLULAR LOCATION.
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5. |
Xu X et al. (2004) Structures of human cytosolic NADP-dependent isocitrate dehydrogenase reveal a novel self-regulatory mechanism of activity.
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6. |
Memon AA et al. (2005) Identification of differentially expressed proteins during human urinary bladder cancer progression.
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7. |
Ronnebaum SM et al. (2006) A pyruvate cycling pathway involving cytosolic NADP-dependent isocitrate dehydrogenase regulates glucose-stimulated insulin secretion.
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8. |
Aghili M et al. (2009) Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review.
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9. |
Zhao S et al. (2009) Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha.
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10. |
Dang L et al. (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate.
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11. |
Yan H et al. (2009) IDH1 and IDH2 mutations in gliomas.
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12. |
Turcan S et al. (2012) IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype.
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13. |
Koivunen P et al. (2012) Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation.
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14. |
Lu C et al. (2012) IDH mutation impairs histone demethylation and results in a block to cell differentiation.
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15. |
Sasaki M et al. (2012) IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics.
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16. |
Losman JA et al. (2013) (R)-2-hydroxyglutarate is sufficient to promote leukemogenesis and its effects are reversible.
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17. |
Rohle D et al. (2013) An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells.
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18. |
Saha SK et al. (2014) Mutant IDH inhibits HNF-4α to block hepatocyte differentiation and promote biliary cancer.
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19. |
Schumacher T et al. (2014) A vaccine targeting mutant IDH1 induces antitumour immunity.
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20. |
None (1973) Linkage analysis in man by somatic cell genetics.
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21. |
Parsons DW et al. (2008) An integrated genomic analysis of human glioblastoma multiforme.
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22. |
Dubbink HJ et al. (2009) IDH1 mutations in low-grade astrocytomas predict survival but not response to temozolomide.
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23. |
Bralten LB et al. (2011) IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo.
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24. |
Flavahan WA et al. (2016) Insulator dysfunction and oncogene activation in IDH mutant gliomas.
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25. |
Mardis ER et al. (2009) Recurring mutations found by sequencing an acute myeloid leukemia genome.
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26. |
et al. (2013) Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.
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27. |
Miller CA et al. (2013) Genomic landscapes and clonality of de novo AML.
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28. |
Brewin J et al. (2013) Genomic landscapes and clonality of de novo AML.
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29. |
Weil D et al. (1977) [Regional localization of the genes for human IDHs, MDHs PGK, alphaGAL, G6PD by interspecific hybridization (author's transl)].
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30. |
Narahara K et al. (1985) Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3.
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31. |
Boone C et al. (1972) Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17, and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids (thymidine kinase-lactate dehydrogenase A-isocitrate dehydrogenase-C-11, E-17, and F-20 chromosomes).
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32. |
Chen SH et al. (1972) Genetic variation of the soluble form of NADP-dependent isocitric dehydrogenase in man.
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33. |
None (1972) Genetics of human-mouse somatic cell hybrids: linkage of human genes for isocitrate dehydrogenase and malate dehydrogenase.
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34. |
None (1968) Intracellular location and genetic control of isozymes of NADP-dependent isocitrate dehydrogenase and malate dehydrogenase.
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35. |
Turner BM et al. (1974) An account of two new ICD-S variants not detectable in red blood cells.
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36. |
Creagan RP et al. (1974) Chromosome assignments of genes in man using mouse-human somatic cell hybrids: Cytoplasmic isocitrate dehydrogenase (IDH 1) and malate dehydrogenase (MDH 1) to chromosomes 2.
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37. |
Nekrutenko A et al. (1998) Cytosolic isocitrate dehydrogenase in humans, mice, and voles and phylogenetic analysis of the enzyme family.
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38. |
Orphanet article
Orphanet ID 299152
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39. |
NCBI article
NCBI 3417
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40. |
OMIM.ORG article
Omim 147700
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Update: 14. August 2020