Targeted Metabolomics

Roberts, Lee D.; Souza, Amanda; Gerszten, Robert E.; Clish, Clary B.

doi:10.1002/0471142727.mb3002s98

Cited by 466 publications

(363 citation statements)

References 43 publications

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“…Metabolomics is a new technology based on the biochemical characterization of metabolites related to genetic and environmental changes. 24,25 Metabolomics knowledge and characterization could complement the genomic approach of the IDD Mexico Study, for the first time providing metabolic insights for patients with IDD in Mexico.…”

Section: Discussionmentioning

confidence: 99%

Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study

et al. 2017

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Objective. Inborn errors of metabolism (IEM) are genetic conditions that are sometimes associated with intellectual developmental disorders (IDD). The aim of this study is to contribute to the metabolic characterization of IDD of unknown etiology in Mexico. Materials and methods. Metabolic screening using tandem mass spectrometry and fluorometry will be performed to rule out IEM. In addition, target metabolomic analysis will be done to characterize the metabolomic profile of patients with IDD. Conclusion. Identification of new metabolomic profiles associated with IDD of unknown etiology and comorbidities will contribute to the development of novel diagnostic and therapeutic schemes for the prevention and treatment of IDD in Mexico.Keywords: Intellectual development disorders; screening; inborn errors metabolism; metabolomics https://doi.org/10.21149/8668Resumen Objetivo. Los errores innatos del metabolismo (EIM) son condiciones genéticas que pueden asociarse con trastornos del desarrollo intelectual (TDI). El objetivo de este estudio es contribuir a la caracterización metabólica de los pacientes con TDI de etiología desconocida. Material y métodos. Se realizará un tamiz metabólico mediante espectrometría de masas-tándem y fluorometría para descartar EIM; además, se analizará el perfil metabolómico de los pacientes con TDI. Conclusión. La identificación de perfiles metabolómicos asociados con los TDI de etiología desconocida contribuirá al desarrollo de nuevos esquemas diagnósticos y terapéuticos para la prevención y tratamiento de los TDI en México.Palabras clave: trastornos del desarrollo intelectual; tamiz; errores innatos del metabolismo; metabolómica

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Section: Discussionmentioning

confidence: 99%

Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study

et al. 2017

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“…The goal of these techniques is to capture information on several biomolecules using a targeted approach (21,22 ) to hundreds or thousands of compounds using an untargeted approach (23 ). The untargeted approaches are generally used in the discovery phase to compare omic samples from 2 different populations (e.g., healthy and diseased).…”

Section: Reviewsmentioning

confidence: 99%

Effective Use of Mass Spectrometry in the Clinical Laboratory

2016

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BACKGROUND:Historically the success of mass spectrometry in the clinical laboratory has focused on drugs of abuse confirmations, newborn screening, and steroid analysis. Clinical applications of mass spectrometry continue to expand, and mass spectrometry is now being used in almost all areas of laboratory medicine.CONTENT: A brief background of the evolution of mass spectrometry in the clinical laboratory is provided with a discussion of future applications. Prominent examples of mass spectrometry are covered to illustrate how it has improved the practice of medicine and enabled physicians to provide better patient care. With increasing economic pressures and decreasing laboratory test reimbursement, mass spectrometry testing has been shown to provide cost-effective solutions. In addition to pointing out the numerous benefits, the challenges of implementing mass spectrometry in the clinical laboratory are also covered.

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“…Such studies generate "big data", in terms of not only their volume, but also their complexity, implying a need for high performance bioinformatics tools (Putri et al, 2013). Conversely, targeted metabolomic studies are hypothesis-driven, characterized by specific metabolites measurements, with high precision and accuracy (Roberts et al, 2012).…”

Section: Strategies For Untargeted Metabolomicsand Data Managementmentioning

confidence: 99%

“…Metabolomics is an emerging discipline with increasing technological advances (Roberts et al, 2012;Putri et al, 2013). Information about different metabolomes is limited, and complications often occur in data analysis, in spite of recent progress in bioinformatics procedures.…”

Section: Introductionmentioning

confidence: 99%

Bioinformatics Tools for Metabolomic Data Processing and Analysis Using Untargeted Liquid Chromatography Coupled With Mass Spectrometry

Lazar¹,

Romanciuc²,

Socaciu³

et al. 2015

BUASVMCN-ASB

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Metabolomics is an important "omics" technology, complementary to genomics and proteomics, as parts of systems biology, giving information (qualitative fingerprints and quantitative profiling) as a mirror of cell and extracellular metabolic activity. A cohort of small metabolites are involved in the control and regulation of cellular functions, as intermediates or final products, their presence or levels being useful for the early diagnosis of different pathologies. Bioinformatics tools are mandatory for a future "computational" metabolomics, needed to manage large number of experimentally acquired data obtained from biological samples (plants, animal or human tissues). This review presents updated information about different high-throughput analytical techniques and data acquisition software (1-2), the pre-processing of data, converted to specific matrices, further processed by specific normalization and alignment procedures (3), then analysed by statistical univariate and multivariate chemometric and /or statistical techniques (4), identifying biomarkers by comparison with databases (5), and finally elucidating the networks and pathways (6). New software is available for data conversion, pre-processing, alignment algorithms, bucketing, normalization, underlying the challenges and comparisons with international data bases. Finally, the accurate identification of individual molecules as biomarkers, either evaluated by untargeted metabolomics techniques (Principal Component Analysis -PCA), Cluster Analysis -CA) or supervised ones (Partial Least Square Discriminant Analysis (PLS-DA) is presented. The accurate identification of metabolites and their involvement in metabolic networks and pathways became possible by well-established databases (HMDB, LIPID MAPS, KEGG, etc.), to validate all experimental data. Bioinformatics is a sine-qua-non tool, to be used and valorised by untargeted or targeted metabolomics, as an integrated technology in systems biology.

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Targeted Metabolomics

Cited by 466 publications

References 43 publications

Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study

Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study

Effective Use of Mass Spectrometry in the Clinical Laboratory

Bioinformatics Tools for Metabolomic Data Processing and Analysis Using Untargeted Liquid Chromatography Coupled With Mass Spectrometry

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