MSACL 2018 EU Abstract

Self-Classified Topic Area(s): Metabolomics

Discovery of Novel Galabiosylceramide-Related Biomarkers of Fabry Disease by Semi-Targeted Metabolomics: the Complex Issue of Structural Isomer Interferences

Michel Boutin, Iskren Menkovic, Tristan Martineau, Vanessa Vaillancourt-Lavigueur, Amanda Toupin, Christiane Auray-Blais
Université de Sherbrooke, Sherbrooke, Québec, Canada

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Michel Boutin (Presenter)
Université de Sherbrooke

Presenter Bio: Michel Boutin is a mass spectrometry specialist. He received his master’s and Ph.D. degrees from Montreal University for research projects related to airborne monitoring of contaminants in the workplace. He did a first postdoctorate in industrial hygiene at McGill University (Montreal, QC), a second postdoctorate at the Université Pierre et Marie Curie (Paris, France) on the analysis of proteins related to cancer by mass spectrometry (ESI and MALDI), and a third postdoctorate at the Institute for Research in Immunology and Cancer (Montreal, QC) in metabolomics. He worked for 2 years as a scientific assistant for a proteomic platform (Université Laval, QC). Since 2011, he is the technical director of the Water-CHUS Expertise Centre in Clinical Mass Spectrometry (Clinical Research Centre-CHUS, Sherbrooke, QC).

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Abstract

Fabry disease is an X-linked lysosomal storage disorder causing severe cardiac, renal and cerebrovascular complications. A metabolomic study targeting lipids in urine revealed 22 galabiosylceramide (Ga2) isoforms/analogs as Fabry disease biomarkers. Unfortunately, the efficiency of these biomarkers was significantly compromised by the co-analysis of their lactosylceramide (LacCer) structural isomers differing only by the conformation of one glycosidic linkage. A normal phase chromatography was developed to separate Ga2 isoforms/analogs from their LacCer counterparts. The removal of the LacCer interferences significantly increased the sensitivity of Ga2 biomarkers, especially for untreated Fabry females (from 9.3% to 70.4%.).