Relative distribution of Gb3 isoforms/analogs in NOD/SCID/Fabry mice tissues determined by tandem mass spectrometry. Bioanalysis 2016 Sep;8(17):1793-807
Date
08/16/2016Pubmed ID
27523577Pubmed Central ID
PMC4992964DOI
10.4155/bio-2016-0116Scopus ID
2-s2.0-84983661922 (requires institutional sign-in at Scopus site) 16 CitationsAbstract
AIM: 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.
CONCLUSION: The devised method is sensitive and useful for the evaluation of biomarker profiles in Fabry mice.
Author List
Provençal P, Boutin M, Dworski S, Au B, Medin JA, Auray-Blais CAuthor
Jeffrey A. Medin PhD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AnimalsBiomarkers
Chromatography, High Pressure Liquid
Fabry Disease
Female
Liquid-Liquid Extraction
Male
Mice, Inbred NOD
Mice, SCID
Tandem Mass Spectrometry
Trihexosylceramides
