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Clinical Metabolomics: the next stage of clinical biochemistry?

Jan Borén1,*

1Avdelningen för molekylär och klinisk medicin, Institutionen för medicin, Göteborgs Universitet, Göteborg, Sweden


One of the main analytical advancements over the last decades has been represented by the introduction of “Omics” methodologies. Omic-oriented strategies have been designed as to delve into biological complexity as a whole, rather than dissecting biological samples through targeted analysis of single molecules. The major filed of interest is today proteomics (proteins), lipidomics (lipids) and metabolomics (metabolites). Metabolomics investigates the metabolome (small molecules) within a specific biological matrix. Being closer to the phenotype than any other omics discipline, metabolomics and metabolic patterns have been in depth investigated in many fields of basic and applied research.

More recently, a role has been proposed for metabolomics in clinical biochemistry and personalized medicine. If metabolome profiles can be linked to specific diseases, metabolomics could become an analytical approach in predictive medicine.

Metabolomics has become a major application in the study of metabolic disorders since altered metabolite profiles can be the indicators of changes in disease-relevant metabolic processes. Metabolites that associate with relevant disease phenotypes can be developed into biomarkers that are indicative of a metabolic deregulation. However, the question is whether a perturbation in a metabolite is causal to a disease phenotype, consequential, or just driven by a confounding factor (“marker or maker”)?

Jan Borén MD, PhD is professor in cardiovascular medicine at University of Gothenburg. His major field of interest is lipid metabolism and how disturbed lipid metabolism induces metabolic dysfunction and disease.

Keywords: Biomarker, Metabolic disease