Challenges and developments in tandem mass spectrometry based clinical metabolomics.
'Clinical metabolomics' aims at evaluating and predicting health and disease risk in an individual by investigating metabolic signatures in body fluids or tissues, which are influenced by genetics, epigenetics, environmental exposures, diet, and behaviour. Powerful analytical techniques like liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) offers a rapid, effective and economical way to analyze metabolic alterations of pre-defined target metabolites in biological samples. Novel hyphenated technical approaches like the combination of tandem mass spectrometry combined with linear ion trap (QTrap mass spectrometry) combines both identification and quantification of known and unknown metabolic targets. We describe new concepts and developments of mass spectrometry based multi-target metabolome profiling in the field of clinical diagnostics and research. Particularly, the experiences from newborn screening provided important insights about the diagnostic potential of metabolite profiling arrays and directs to the clinical aim of predictive, preventive and personalized medicine by metabolomics.
Ceglarek
Uta
U
Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University Hospital Leipzig, Liebigstrasse 27, D-04103 Leipzig, Germany. uta.ceglarek@medizin.uni-leipzig.de
Leichtle
Alexander
A
Brügel
Mathias
M
Kortz
Linda
L
Brauer
Romy
R
Bresler
Kristin
K
Thiery
Joachim
J
Fiedler
Georg Martin
GM
D000596:Amino Acids / Q000032:analysis; D001699:Biometry; D002331:Carnitine / Q000031:analogs & derivatives / Q000032:analysis; D015777:Eicosanoids / Q000032:analysis; D004958:Estradiol / Q000032:analysis; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007231:Infant, Newborn; D008264:Macrophages / Q000378:metabolism; D055442:Metabolome; D055432:Metabolomics / Q000379:methods* / Q000639:trends*; D015997:Neonatal Screening; D053719:Tandem Mass Spectrometry / Q000379:methods* / Q000639:trends*; D013739:Testosterone / Q000032:analysis
D000596:Amino Acids; D015777:Eicosanoids; C116917:acylcarnitine; D013739:Testosterone; D004958:Estradiol; D002331:Carnitine