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Fabry Disease Biomarkers: Analysis of Urinary Lyso-Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry.
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- Author(s): Lavoie P;Lavoie P; Boutin M; Boutin M; Abaoui M; Abaoui M; Auray-Blais C; Auray-Blais C
- Source:
Current protocols in human genetics [Curr Protoc Hum Genet] 2016 Jul 01; Vol. 90, pp. 17.22.1-17.22.12. Date of Electronic Publication: 2016 Jul 01.- Publication Type:
Journal Article- Language:
English - Source:
- Additional Information
- Source: Country of Publication: United States NLM ID: 101287858 Publication Model: Electronic Cited Medium: Internet ISSN: 1934-8258 (Electronic) Linking ISSN: 19348258 NLM ISO Abbreviation: Curr Protoc Hum Genet Subsets: MEDLINE
- Subject Terms: Tandem Mass Spectrometry*; Biomarkers/*urine ; Fabry Disease/*urine ; Glycolipids/*chemistry ; Glycolipids/*urine ; Sphingolipids/*chemistry ; Sphingolipids/*urine; Biomarkers/chemistry ; Chromatography, High Pressure Liquid ; Fabry Disease/diagnosis ; Female ; Humans ; Male ; Reference Standards ; Solid Phase Extraction
- Abstract: Fabry disease is an X-linked lysosomal storage disorder caused by the absence or reduction of the enzyme α-galactosidase A activity. Currently, globotriaosylsphingosine (lyso-Gb3 ) and globotriaosylceramide (Gb3 ) are used as biomarkers to diagnose and monitor Fabry patients. However, recent metabolomic studies have shown that several glycosphingolipids are also elevated in biological fluids of affected patients and may be related to disease manifestations. This unit describes a multiplex methodology targeting the analysis of urinary lyso-Gb3 and seven structurally related analogs. A solid-phase extraction process is performed, then lyso-Gb3 and its analogs are analyzed simultaneously with an internal standard by ultra-performance liquid chromatography (UPLC) coupled to a tandem mass spectrometry (MS/MS) system. This methodology can be useful for the diagnosis of Fabry patients, including patients with cardiac variant mutations, but also to monitor the efficacy of therapeutic interventions, considering that lyso-Gb3 analogs are more elevated than lyso-Gb3 itself in urine. © 2016 by John Wiley & Sons, Inc.
(Copyright © 2016 John Wiley & Sons, Inc.) - References: Abaoui, M. , Boutin, M. , Lavoie, P. , and Auray-Blais, C. 2016. Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients. Clin. Chim. Acta. 452:191-198. doi: 10.1016/j.cca.2015.11.018.
Aerts, J.M. , Groener, J.E. , Kuiper, S. , Donker-Koopman, W.E. , Strijland, A. , Ottenhoff, R. , van Roomen, C. , Mirzaian, M. , Wijburg, F.A. , Linthorst, G.E. , Vedder, A.C. , Rombach, S.M. , Cox-Brinkman, J. , Somerharju, P. , Boot, R.G. , Hollak, C.E. , Brady, R.O. , and Poorthuis, B.J. 2008. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc. Natl. Acad. Sci. U.S.A. 105:2812-2817. doi: 10.1073/pnas.0712309105.
Auray-Blais, C. and Boutin, M. 2012. Novel Gb3 isoforms detected in urine of Fabry disease patients: A metabolomic study. Curr. Med. Chem. 19:3241-3252. doi: 10.2174/092986712800784739.
Auray-Blais, C. , Boutin, M. , Gagnon, R. , Dupont, F.O. , Lavoie, P. , and Clarke, J.T.R. 2012. Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics. Anal. Chem. 84:2745-2753. doi: 10.1021/ac203433e.
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Auray-Blais, C. , Blais, C.M. , Ramaswami, U. , Boutin, M. , Germain, D.P. , Dyack, S. , Bodamer, O. , Pintos-Morell, G. , Clarke, J.T. , Bichet, D.G. , Warnock, D.G. , Echevarria, L. , West, M.L. , and Lavoie, P. 2015. Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. Clin. Chim. Acta. 438:195-204. doi: 10.1016/j.cca.2014.08.002.
Boutin, M. and Auray-Blais, C. 2015. Metabolomic discovery of novel urinary galabiosylceramide analogs as Fabry disease biomarkers. J. Am. Soc. Mass. Spectrom. 26:499-510. doi: 10.1007/s13361-014-1060-3.
Clarke, J.T. 2007. Narrative Review: Fabry disease. Ann. Intern. Med. 146:425-433. doi: 10.7326/0003-4819-146-6-200703200-00007.
Dupont, F.O. , Gagnon, R. , Lavoie P , and Auray-Blais, C. 2012. A metabolomic study reveals novel plasma lyso-Gb3 analogs as Fabry disease biomarkers. Curr. Med. Chem. 20:280-288. doi: 10.2174/0929867311320020008.
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Pisani, A. , Visciano, B. , Roux, G.D. , Sabbatini, M. , Porto, C. , Parenti, G. , and Imbriaco, M. 2012. Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature. Mol. Genet. Metab. 107:267-275. doi: 10.1016/j.ymgme.2012.08.003.
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Thurberg, B.L. , Rennke, H. , Colvin, R.B. , Dikman, S. , Gordon, R.E. , Collins, A.B. , Desnick, R.J. , and O'Callaghan, M. 2002. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. 62:1933-1946. doi: 10.1046/j.1523-1755.2002.00675.x.
Vedder, A.C. , Linthorst, G.E. , van Breemen, M.J. , Groener, J.E. , Bemelman, F.J. , Strijland, A. , Mannens, M.M. , Aerts, J.M. , and Hollak, C.E. 2007. The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels. J. Inherit. Metab. Dis. 30:68-78. doi: 10.1007/s10545-006-0484-8.
Wang, R.Y. , Lelis, A. , Mirocha, J. , and Wilcox, W.R. 2007. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet. Med. 9:34-35. doi: 10.1097/GIM.0b013e31802d8321. - Grant Information: Canada CIHR
- Contributed Indexing: Keywords: Fabry disease; UPLC-MS/MS; analogs; biomarkers; lyso-Gb3; mass spectrometry; urine
- Accession Number: 0 (Biomarkers)
0 (Glycolipids)
0 (Sphingolipids)
126550-86-5 (globotriaosyl lysosphingolipid) - Publication Date: Date Created: 20160702 Date Completed: 20180305 Latest Revision: 20200108
- Publication Date: 20240628
- Accession Number: 10.1002/cphg.1
- Accession Number: 27367162
- Source:
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