ISSN: 2041-6792

Clinical Investigation

Metabolomics New Findings

While we remain in the midst of metabolomics technology refinement, we are still learning about what actually constitutes the human metabolome. A recent estimate of the entire complement of small molecules expected to be found in the human body exceeds 19,000 (Wishart et al. 2013). This number includes not only metabolites directly linked to endogenous enzymatic activities encoded by the human genome, but also those derived from food, medications, the microbiota that inhabit the body, and the environment. Our dependence on diet as a source for nine of the 20 amino acids for which there are codons in the human genome but no endogenous biosynthetic route is an example that highlights why it is important to account for “exogenous” metabolites in our study of the metabolome. Although broadening the scope of analyses to measure more metabolites increases the difficulty level, it is clear that comprehensive metabolomics heralds exciting new opportunities for discovery. Metabolomics is an objective lens to view the complex nature of how physiology is linked to external events and conditions, as well as measure its response to perturbations such as those associated with disease. Metabolites have been described as proximal reporters of disease because their abundances in biological specimens are often directly related to pathogenic mechanisms (Gerszten and Wang 2008) and this concept is routinely demonstrated in clinical chemistry laboratory results. Historically, often a decade or more could pass between the initial discovery of a disease marker, its validation in human trials, and its routine implementation as a clinical test. To realize the potential of precision medicine, we need to accelerate the discovery of specific markers of disease and drug pharmacodynamics, as well as metabolite profiles associated with external environment and their associations with disease risk. Current metabolomics technologies can enable more rapid discovery and validation of metabolic indicators of disease. Techniques used in metabolomics, such as liquid chromatography–mass spectrometry (LC-MS), can routinely measure tens to hundreds of metabolites with excellent precision and are suitable for discovery studies in human cohorts.  

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