Organic acid profiles of human tissue biopsies by capillary gas chromatography-mass spectrometry

Goodman, Stephen I.; Helland, P.; Stokke, Oddvar; Flatmark, A; Jellum, Egil

doi:10.1016/s0021-9673(01)92062-x

Cited by 21 publications

(3 citation statements)

References 4 publications

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“…Glutamate, which is not only produced in the metabolism of saccharopine but can also be derived from extracellular glutamine, demonstrated only modest increases in abundance (log 2 fold change = 0.27, q = 0.01). Notably, the accumulation of 3-hydroxyglutarate and glutarate in the urine phenocopies the presentation of glutaric aciduria type I, an autosomal recessive disorder caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH), which catalyzes the conversion of glutaryl-CoA to crotonyl-CoA (19)(20)(21). GCDH is neither underexpressed nor mutated in HCC tumors.…”

Section: Comparative Metabolomics Identifies Extreme Hcc-specific Dis...mentioning

confidence: 99%

Mitonuclear genotype remodels the metabolic and microenvironmental landscape of Hürthle cell carcinoma

et al. 2022

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Hürthle cell carcinomas (HCCs) display two exceptional genotypes: near-homoplasmic mutation of mitochondrial DNA (mtDNA) and genome-wide loss of heterozygosity (gLOH). To understand the phenotypic consequences of these genetic alterations, we analyzed genomic, metabolomic, and immunophenotypic data of HCC and other thyroid cancers. Both mtDNA mutations and profound depletion of citrate pools are common in HCC and other thyroid malignancies, suggesting that thyroid cancers are broadly equipped to survive tricarboxylic acid cycle impairment, whereas metabolites in the reduced form of NADH-dependent lysine degradation pathway were elevated exclusively in HCC. The presence of gLOH was not associated with metabolic phenotypes but rather with reduced immune infiltration, indicating that gLOH confers a selective advantage partially through immunosuppression. Unsupervised multimodal clustering revealed four clusters of HCC with distinct clinical, metabolomic, and microenvironmental phenotypes but overlapping genotypes. These findings chart the metabolic and microenvironmental landscape of HCC and shed light on the interaction between genotype, metabolism, and the microenvironment in cancer.

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Section: Comparative Metabolomics Identifies Extreme Hcc-specific Dis...mentioning

confidence: 99%

Mitonuclear genotype remodels the metabolic and microenvironmental landscape of Hürthle cell carcinoma

et al. 2022

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“…GC-MS is a method that was already used for metabolite profiling in the 1970s [ 82 , 83 ]. More recently, this technique has been recognized in plant research as a highly valuable metabolic phenotyping approach [ 71 , 84 ].…”

Section: Metabolite Profiling Using Gc-msmentioning

confidence: 99%

Rationales and Approaches for Studying Metabolism in Eukaryotic Microalgae

et al. 2014

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The generation of efficient production strains is essential for the use of eukaryotic microalgae for biofuel production. Systems biology approaches including metabolite profiling on promising microalgal strains, will provide a better understanding of their metabolic networks, which is crucial for metabolic engineering efforts. Chlamydomonas reinhardtii represents a suited model system for this purpose. We give an overview to genetically amenable microalgal strains with the potential for biofuel production and provide a critical review of currently used protocols for metabolite profiling on Chlamydomonas. We provide our own experimental data to underpin the validity of the conclusions drawn.

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“…The possibility of analysing small tissue biopsies (obtained by needle techniques) by capillary g.c.-m.s. (Goodman et al 1977) opens an interesting area, particularly within the field of inborn errors of metabolism. In this way one can approach the affected tissues directly, and learn about the metabolic situation inside the cells.…”

Section: Sample Types Sample Work-up Patient Selectionmentioning

confidence: 99%

Application of mass spectrometry and metabolite profiling to the study of human diseases

Jellum

1979

Phil. Trans. R. Soc. Lond. A

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Many human diseases result in characteristic changes in the biochemical composition of the cells and the body fluids. The profiling approach, with gas chromatography-mass spectrometry (g.c.-m.s.) and computer handling of the data, are suitable for detecting such changes, e.g. the production of abnormal metabolites in a patient. The methods can be used to diagnose and study about 100 different metabolic disorders, and have resulted in the discovery of 25 new inborn errors of metabolism. Other diseases, such as ketoacidosis, lactic acidosis, bacterial and viral infections, rheumatoid arthritis and cancer, are currently studied by means of g.c.-m.s. methods. Many difficulties and pitfalls are attached to the investigation of human diseases by g.c.-m.s. Dietary variation, drug intake and artefacts produced during chemical pretreatment of the samples, and lack of knowledge of the normal constituents seen in the various profiles, are factors to consider. Despite many problems, the methods have proved to be valuable analytical tools in the clinical laboratory. It is likely that the new developments in mass spectrometry technology (e.g. automatic computer evaluation of the g.c. profiles, automated pyrolysis-m.s., high resolution g.c.-m.s.) will make the methods play increasingly important roles in the biomedical field.

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Organic acid profiles of human tissue biopsies by capillary gas chromatography-mass spectrometry

Cited by 21 publications

References 4 publications

Mitonuclear genotype remodels the metabolic and microenvironmental landscape of Hürthle cell carcinoma

Mitonuclear genotype remodels the metabolic and microenvironmental landscape of Hürthle cell carcinoma

Rationales and Approaches for Studying Metabolism in Eukaryotic Microalgae

Application of mass spectrometry and metabolite profiling to the study of human diseases

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