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Use of Metabolomics to Discover Metabolic Patterns Associated with Human Diseases

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Metabolic Profiling: Its Role in Biomarker Discovery and Gene Function Analysis

Abstract

Functional genomics has been a major emphasis in recent years as researchers attempt to unravel the structure and function of complex biological mechanisms. These functional genomic strategies aim to monitor all gene products simultaneously in order to establish a more comprehensive overview of disease mechanisms and to find suitable therapeutic targets. The analysis of primary gene products has also been considered as a diagnostic and screening tool for disease recognition. There are several test cases demonstrating the validity of such approaches. However, there are also severe practical and theoretical constraints in applying mRNA or protein profiling as universal tools for an improved understanding and diagnosis of disease patterns. The paradigm of linear control from gene expression to transcription and translation to metabolic phenotypes has been challenged by multiple experimental observations. These include low or missing correlations between mRNA and protein abundances, fluctuations in RNA or protein turnover rates, and the complexity of protein interaction networks. Furthermore both transcript arrays and proteomics are associated with high sample costs, limiting the number of analyzed biological replicates to the point that valid statistical evaluations cannot be carried out. It has been estimated that even for isogenic mouse lines, biological variability requires at least 15 replicates per genotype tested.

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Author information

Authors and Affiliations

  1. Max-Planck-Institute of Molecular Plant Physiology, 14424, Potsdam/Golm, Germany

    Oliver Fiehn

  2. German Institute of Human Nutrition (DifE), 14558, Bergholz-Rehbrücke, Germany

    Joachim Spranger

Authors
  1. Oliver Fiehn
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  2. Joachim Spranger
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Editor information

Editors and Affiliations

  1. Pharmacia Corporation, Chesterfield, MO, 63198, USA

    George G. Harrigan

  2. Department of Chemistry, UMIST, PO Box 88, Manchester, M60 1QD, UK

    Royston Goodacre

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Fiehn, O., Spranger, J. (2003). Use of Metabolomics to Discover Metabolic Patterns Associated with Human Diseases. In: Harrigan, G.G., Goodacre, R. (eds) Metabolic Profiling: Its Role in Biomarker Discovery and Gene Function Analysis. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0333-0_11

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  • DOI: https://doi.org/10.1007/978-1-4615-0333-0_11

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-5025-5

  • Online ISBN: 978-1-4615-0333-0

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