IDH2 Mutations in Patients with d -2-Hydroxyglutaric Aciduria
Abstract
A mutation that changes the specificity of an enzyme in human cancer is also found in an inherited metabolic disorder.
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Mutations in IDH2 cause D-2 hydroxyglutaric aciduria type 2.
“Mutations in the IDH2 gene, a mammalian IDH homolog, causes D-2 hydroxyglutaric aciduria type 2 (D2HGA2) (Kranendijk et al., 2010)”
From SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways (2013) · cites this paper as Kranendijk et al., 2010
Germline IDH2 R140 mutations occur in D-2HG aciduria.
“researchers looked for and successfully found germline IDH2 R140 mutations in D-2HG aciduria”
From Metabolic Reprogramming: A Cancer Hallmark Even Warburg Did Not Anticipate (2012) · cites this paper as Kranendijk et al., 2010
IDH2 R140 mutations account for nearly half of all cases of D-2HG aciduria.
“IDH2 R140 mutations now account for nearly half of all cases of this devastating disease (Kranendijk et al., 2010)”
From Metabolic Reprogramming: A Cancer Hallmark Even Warburg Did Not Anticipate (2012) · cites this paper as Kranendijk et al., 2010
The vast majority of IEMs result from recessively inherited loss-of-function mutations in enzymes and transporters, although several are caused by mutations that either stimulate basal enzymatic activity or evoke altogether new functions.
“The vast majority of IEMs result from recessively inherited loss-of-function mutations in enzymes and transporters, although several are caused by mutations that either stimulate basal enzymatic activity or evoke altogether new functions (Kranendijk et al., 2010; Stanley et al., 1998).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Kranendijk et al., 2010
Up to half of patients with (D)-2-hydroxyglutaric aciduria contain heterozygous active-site mutations in IDH2.
“up to half of patients with (D)-2-hydroxyglutaric aciduria contain heterozygous active-site mutations in IDH2 (Kranendijk et al., 2010).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Kranendijk et al., 2010
D-2-HG accumulation in IDH-mutant glioma inhibits PHD hydroxylase and stabilises HIF-1α.
“Indeed, D-2-HG accumulation in IDH-mutant glioma has been found to inhibit PHD hydroxylase and stabilise HIF-1α126 and HIF-1αstabilisation has been shown to occur in IDH1-mutant brain tissue127.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [126]
D-2-HG accumulation under pathogenic conditions may contribute to tumorigenicity by stabilizing HIF-1α and impairing collagen biogenesis.
“the concentrations at which it accumulates under pathogenic conditions suggests HIF-1α stabilisation and impaired collagen biogenesis may contribute to tumorigenicity126-130.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [126]
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- Authors
- Kranendijk, M., Struys, E. A., van Schaftingen, E., Gibson, K. M., Kanhai, W. A., van der Knaap, M. S., Amiel, J., Buist, N. R., Das, A. M., de Klerk, J. B., Feigenbaum, A. S., Grange, D. K., Hofstede, F. C., Holme, E., Kirk, E. P., Korman, S. H., Morava, E., Morris, A., Smeitink, J., Sukhai, R. N., Vallance, H., Jakobs, C., & Salomons, G. S.
- Affiliations
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Laboratory of Physical Chemistry, de Duve Institute, Universite Catholique de Louvain, xxxx Louvain, Belgium.
- Michigan Technological University (US)
- Department of Child Neurology, VU University Medical Center Amsterdam, xxxx Amsterdam, Netherlands.
- Hôpital Necker-Enfants Malades (FR)
- Oregon Health & Science University (US)
- Medizinische Hochschule Hannover (DE)
- Department Metabolic Diseases, ErasmusMC/Sophia Childrens Hospital, xxxx Rotterdam, Netherlands.
- University of Toronto (CA)
- St. Louis Children's Hospital (US)
- University Medical Center Utrecht (NL)
- Sahlgrenska University Hospital (SE)
- Sydney Children's Hospital (AU)
- Hebrew University of Jerusalem (IL)
- Department of Pediatrics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Netherlands.
- National Health Service (GB)
- Radboud University Medical Center (NL)
- Leiden University Medical Center (NL)
- University of British Columbia (CA)
- Corresponding author
- Kranendijk, Martijn
- Jakobs, Cornelis
- ORCID
- Venue
- Science
- Published
- 2010-10-15
- Volume
- 330
- Issue
- 6002
- Pages
- 336-336
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1993672713
- Cited by
- 195
- References
- 9
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 12 · 2023: 4 · 2022: 16 · 2021: 9 · 2020: 9 · 2019: 17 · 2018: 11 · 2017: 8 · 2016: 13 · 2015: 17 · 2014: 9 · 2013: 19 · 2012: 20
- FWCI
- 12.85
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- VU Research Portal (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Digital Access to Libraries (submittedVersion)
- Lirias (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Biochemical Acid Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Keywords
- IDH2 mutation, D-2-hydroxyglutaric aciduria, D-2-hydroxyglutarate, isocitrate dehydrogenase, germline mutations, neurometabolic disorders, 2-ketoglutarate, cancer metabolism
- MeSH terms
- Adolescent, Brain Neoplasms, Child, Child, Preschool, Female, Glutarates, Heterozygote, Humans, Infant, Isocitrate Dehydrogenase, Male, Neoplasms, Germ-Line Mutation, Brain Diseases, Metabolic, Inborn, Young Adult
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