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Difference between revisions of "IDH-1"
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*Neuronal tumors | *Neuronal tumors | ||
*Sarcoma, carcinoma <ref>{{Cite journal | last1 = Sahm | first1 = F. | last2 = Capper | first2 = D. | last3 = Meyer | first3 = J. | last4 = Hartmann | first4 = C. | last5 = Herpel | first5 = E. | last6 = Andrulis | first6 = M. | last7 = Mechtersheimer | first7 = G. | last8 = Petersen | first8 = I. | last9 = Paulus | first9 = W. | title = Immunohistochemical analysis of 1844 human epithelial and haematopoietic tumours and sarcomas for IDH1R132H mutation. | journal = Histopathology | volume = 58 | issue = 7 | pages = 1167-72 | month = Jun | year = 2011 | doi = 10.1111/j.1365-2559.2011.03823.x | PMID = 21707716 }}</ref> | *Sarcoma, carcinoma <ref>{{Cite journal | last1 = Sahm | first1 = F. | last2 = Capper | first2 = D. | last3 = Meyer | first3 = J. | last4 = Hartmann | first4 = C. | last5 = Herpel | first5 = E. | last6 = Andrulis | first6 = M. | last7 = Mechtersheimer | first7 = G. | last8 = Petersen | first8 = I. | last9 = Paulus | first9 = W. | title = Immunohistochemical analysis of 1844 human epithelial and haematopoietic tumours and sarcomas for IDH1R132H mutation. | journal = Histopathology | volume = 58 | issue = 7 | pages = 1167-72 | month = Jun | year = 2011 | doi = 10.1111/j.1365-2559.2011.03823.x | PMID = 21707716 }}</ref> | ||
==Functional meaning== | |||
The R132H amino acic exchange alters the enzymatic activity of IDH resulting in production D-2-hydroxyglutarate (D-2HG).<ref>{{Cite journal | last1 = Longuespée | first1 = R. | last2 = Wefers | first2 = AK. | last3 = De Vita | first3 = E. | last4 = Miller | first4 = AK. | last5 = Reuss | first5 = DE. | last6 = Wick | first6 = W. | last7 = Herold-Mende | first7 = C. | last8 = Kriegsmann | first8 = M. | last9 = Schirmacher | first9 = P. | title = Rapid detection of 2-hydroxyglutarate in frozen sections of IDH mutant tumors by MALDI-TOF mass spectrometry. | journal = Acta Neuropathol Commun | volume = 6 | issue = 1 | pages = 21 | month = 03 | year = 2018 | doi = 10.1186/s40478-018-0523-3 | PMID = 29499756 }}</ref> Therefore the mutated enzyme is considered an oncometabolite. | |||
[[File:Wild-type_and_mutant_IDH1_structures.png|400px]] | |||