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Biomedical applications of Infrared Ion Spectroscopy

The identification of molecular biomarkers is critical for diagnosing and treating patients and for establishing a fundamental understanding of the pathophysiology and underlying biochemistry of inborn errors of metabolism. Currently, liquid chromatography/high-resolution mass spectrometry and nuclear magnetic resonance spectroscopy are the principle methods used for biomarker research and for structural elucidation of small molecules in patient body fluids.While both are powerful techniques, several limitations exist that often make the identification of unknown compounds challenging.

Infrared ion spectroscopy (IRIS) is a valuable orthogonal technique that provides highly-specific molecular structure information while maintaining ultra-high sensitivity. As an example, we have identified novel biomarkers for pyridoxine-dependent epilepsy (Journal of Clinical Investigation).

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Papers

  • Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism
    R.E. van Outersterp, S.J. Moons, U.F.H. Engelke, H. Bentlage, T.M.A. Peters, A. van Rooij, M.C.D.G. Huigen, S. de Boer, E. van der Heeft, L.A.J. Kluijtmans,  C.D.M. van Karnebeek, R.A. Wevers, G. Berden, J. Oomens, T.J. Boltje,  K.L.M. Coene, J. Martens
    Communications Biology volume 4, Article number: 367 (2021) (open access, pdf file free download) © 2021 Nature Group.

  • Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy. 
    U.F.H. Engelke, R.E. van Outersterp, J. Merx, F.A.M.G. van Geenen, A. van Rooij, G. Berden, M.C.D.G. Huigen, L.A.J. Kluijtmans, T.M.A. Peters, H.H. Al-Shekaili, B.R. Leavitt, E. de Vrieze, S. Broekman, E. van Wijk, L.A. Tseng, P. Kulkarni, F.P.J.T. Rutjes, J. Mecinović, E.A. Struys, L.A. Jansen, S.M. Gospe Jr., S. Mercimek-Andrews, K. Hyland, M.A.A.P. Willemsen, L.A. Bok, C.D.M. van Karnebeek, R.A. Wevers, T.J. Boltje, J. Oomens, J. Martens, K.L.M. Coene
    The Journal of Clinical Investigation 131 (2021) e148272  https://doi.org/10.1172/JCI148272 (open access, pdf file free download)

  • Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy. 
    R.E. van Outersterp, U.F.H. Engelke, J. Merx, G. Berden, M. Paul, T. Thomulka, A. Berkessel, M.C.D.G. Huigen, L.A.J. Kluijtmans,   J. Mecinović, F.P.J.T. Rutjes, C.D.M. van Karnebeek, R.A. Wevers, T.J. Boltje, K.L.M. Coene, J. Martens, J. Oomens,
    Analytical Chemistry 93 (2021) 15340-15348  https://doi.org/10.1021/acs.analchem.1c02896 (open access, pdf file free download)

  • Molecular identification in metabolomics using infrared ion spectroscopy.
    J. Martens, G. Berden, R.E. van Outersterp, L.A.J. Kluijtmans, U.F. Engelke, C.D.M. van Karnebeek, R.A. Wevers, and J. Oomens
    Scientific Reports 7 (2017) 3363.
    © 2017 Nature Group. Scientific Reports (2017) (open access, pdf file free download)

  • Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.
    J. Martens, G. Berden, H. Bentlage, K.L. Coene, U.F. Engelke, D. Wishart, M. van Scherpenzeel, L.A.J. Kluijtmans, U.F. Engelke, C.D.M. van Karnebeek, R.A. Wevers, and J. Oomens
    Journal of Inherited Metabolic Disease 41 (2018) 367–377.
    © 2018 Springer. Journal of Inherited Metabolic Disease (2018)