Authors: | Bhagwat, N.; Levine, R. L. |
Article Title: | Metabolic syndromes and malignant transformation: Where the twain shall meet |
Abstract: | Recurrent somatic mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes that result in the accumulation of D-2-hydroxyglutarate (D-2-HG) have been identified in malignant gliomas and in acute myeloid leukemia (AML). However, the function of this metabolite in normal and malignant tissues remains uncertain. A report in the current issue of Science describes a germline IDH2 mutation in a subset of patients with a rare metabolic disorder - D-2-hydroxyglutaric aciduria - that is similar to mutations seen in cancer patients. These observations further elucidate the effects of IDH mutations on normal and malignant cells. |
Keywords: | unclassified drug; acute granulocytic leukemia; somatic mutation; genetics; mutation; leukemia, myeloid, acute; clinical feature; pathogenesis; review; nonhuman; cancer patient; glioma; metabolism; amino acid substitution; genetic association; pathology; mutational analysis; heterozygote; cell transformation, neoplastic; enzyme analysis; cell transformation; glioblastoma; malignant neoplastic disease; metabolic syndrome x; malignant transformation; enzyme structure; metabolic disorder; enzyme mechanism; isocitrate dehydrogenase; molecular pathology; glutarates; 2 hydroxyglutaric acid; 2 oxoglutaric acid; isocitrate dehydrogenase 1; isocitrate dehydrogenase isoenzyme; alpha-hydroxyglutarate; glutaric acid derivative; 2 hydroxyglutaric aciduria; autosomal recessive inheritance; inborn error of metabolism; metabolism, inborn errors |
Journal Title: | Science Translational Medicine |
Volume: | 2 |
Issue: | 54 |
ISSN: | 1946-6234 |
Publisher: | American Association for the Advancement of Science |
Date Published: | 2010-10-20 |
Start Page: | 54ps50 |
Language: | English |
DOI: | 10.1126/scitranslmed.3001669 |
PUBMED: | 20962328 |
PROVIDER: | scopus |
DOI/URL: | |
Notes: | --- - "Export Date: 20 April 2011" - "Art. No.: 54ps50" - "Source: Scopus" |