title: Relative distribution of Gb3 isoforms/analogs in NOD/SCID/Fabry mice tissues determined by tandem mass spectrometry.
abstract: OBJECTIVE
  Fabry disease is a lysosomal storage disorder leading to glycosphingolipid accumulation in different organs, tissues and biological fluids. The development of a Fabry disease gene therapy trial is underway in Canada. A tool to determine the distribution of Gb3 biomarkers in tissues of Fabry mice might be applicable to monitor the effect of gene therapy. Results & methodology: An ultra-performance LC-MS/MS (UPLC-MS/MS) method for the analysis of 22 Gb3 isoform/analogs in various Fabry mice tissues was developed and validated. Marked variation in biomarker organ distribution was found with higher levels in the spleen, followed by the small intestine, kidneys, lungs, heart, liver and brain.
  
  
  CONCLUSIONS
  The devised method is sensitive and useful for the evaluation of biomarker profiles in Fabry mice.
authors: Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine & Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4 Canada.
authors: Philippe
authors: P
authors: Provençal
authors: Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine & Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4 Canada.
authors: Michel
authors: M
authors: Boutin
authors: Institute of Medical Science, Max Bell Research Center, University of Toronto, 101 College Street, Room 5-407, Toronto, ON, M5G 1L7 Canada.
authors: Shaalee
authors: S
authors: Dworski
authors: Institute of Medical Science, Max Bell Research Center, University of Toronto, 101 College Street, Room 5-407, Toronto, ON, M5G 1L7 Canada.
authors: Bryan
authors: B
authors: Au
authors: Institute of Medical Science, Max Bell Research Center, University of Toronto, 101 College Street, Room 5-407, Toronto, ON, M5G 1L7 Canada.|Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, MFRC 3018, Milwaukee, WI 53226, USA.
authors: Jeffrey A
authors: JA
authors: Medin
authors: Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine & Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4 Canada.
authors: Christiane
authors: C
authors: Auray-Blais
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000032:analysis; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D000795:Fabry Disease / Q000473:pathology*; D005260:Female; D059625:Liquid-Liquid Extraction / Q000379:methods; D008297:Male; D016688:Mice, Inbred NOD; D016513:Mice, SCID; D053719:Tandem Mass Spectrometry / Q000379:methods*; D014281:Trihexosylceramides / Q000032:analysis*
chemical_list: D015415:Biomarkers; D014281:Trihexosylceramides; C018549:globotriaosylceramide
keywords: Fabry disease; MS; NOD/SCID mice; globotriaosylceramide; isoforms/analogs; liquid–liquid extraction; organ biomarker distribution