UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses

被引:49
作者
Auray-Blais, Christiane [1 ]
Lavoie, Pamela [1 ]
Tomatsu, Shunji [2 ]
Valayannopoulos, Vassili [3 ,4 ]
Mitchell, John J. [5 ]
Raiman, Julian [6 ]
Beaudoin, Maxime [1 ]
Maranda, Bruno [1 ]
Clarke, Joe T. R. [6 ]
机构
[1] Univ Sherbrooke, CR CHUS, Hosp Fleurimont, Fac Med & Hlth Sci,Dept Pediat,Div Med Genet, 3 001 12th Ave North, Sherbrooke, PQ J1H 5N4, Canada
[2] Nemours Alfred I DuPont Hosp Children, 1600 Rockland Rd, Wilmington, DE 19803 USA
[3] Hop Univ Necker Enfants Malad, Ctr Reference Malad Metabol, 149 Rue Sevres, F-75015 Paris, France
[4] Inst IMAGINE, 149 Rue Sevres, F-75015 Paris, France
[5] McGill Univ, Ctr Hlth, 1001 Blvd Decarie, Montreal, PQ H4A 3J1, Canada
[6] Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
关键词
Mucopolysaccharidoses; Tandem mass spectrometry; Glycosaminoglycans; Dermatan sulfate; Heparan sulfate; Keratan sulfate; Chondroitin sulfate; KERATAN SULFATE; URINARY GLYCOSAMINOGLYCANS; CEREBROSPINAL-FLUID; LC-MS/MS; DISORDERS; BLUE; IVA; MUCOLIPIDOSES; PAPER; IIIA;
D O I
10.1016/j.aca.2016.06.054
中图分类号
O65 [分析化学];
学科分类号
070302 ; 081704 ;
摘要
Mucopolysaccharidoses (MPSs) are a group of disorders resulting from primary defects in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). Depending on the specific enzyme defect, the catabolism of one or more GAGs is blocked leading to accumulation in tissues and biological fluids. GAG measurements are important for high-risk screening, diagnosis, monitoring treatment efficacy, and patient follow up. The dimethylmethylene blue (DMB) spectrophotometric method commonly used in most biochemical genetics laboratories relies on a non-specific total GAG analysis which has led to false positive results, and even false negative results (mainly for MPS III and IV patients). The main objective of our project was to devise and validate a reliable tandem mass spectrometry multiplex analysis for the urine quantitation of four GAGs (dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), and chondroitin sulfate (CS)) for an eventual technological transfer to the clinic. The developed methodology is rapid (7 min) and our results showed good intraday and interday precision (RSDs <= 8.7%) and accuracy (Biases range: -12.0%-18.4%). Linearity was good (r(2) > 0.995) for DS, HS, CS, and KS calibration curves. In comparison with the DMB spectrophotometric method, this multiplex tandem mass spectrometry method allows GAG fractionation, thus a differentiation of MPS types, except for MPS I and II which are characterized by the same GAG profile. The devised method is a useful and reliable tool for diagnosis of MPS patients, as well as their monitoring and follow up, as shown by longitudinal studies. (C) 2016 Elsevier B.V. All rights reserved.
引用
收藏
页码:139 / 148
页数:10
相关论文
共 30 条
[1]   Neonatal Screening for Mucopolysaccharidoses by Determination of Glycosaminoglycans in the Eluate of Urine-Impregnated Paper: Preliminary Results of an Improved DMB-Based Procedure [J].
Alonso-Fernandez, J. R. ;
Fidalgo, J. ;
Colon, C. .
JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2010, 24 (03) :149-153
[2]   Evaluation of urinary keratan sulfate disaccharides in MPS IVA patients using UPLC-MS/MS [J].
Auray-Blais, Christiane ;
Lavoie, Pamela ;
Maranda, Bruno ;
Boutin, Michel .
BIOANALYSIS, 2016, 8 (03) :179-191
[3]   Urine keratan sulfate (uKS) elevation in lysosomal disorders (LSD): Comparison of uKS levels in Morquio/MPS IV versus non-Morquio LSD [J].
Auray-Blais, Christiane ;
Millington, David ;
Wijburg, Frits ;
Wood, Timothy ;
Giugliani, Roberto ;
Harmatz, Paul ;
Ellsworth, Katarzyna ;
Lavoie, Pamela ;
van Vlies, Naomi ;
Zhang, Haoyue ;
Miller, Nicole .
MOLECULAR GENETICS AND METABOLISM, 2015, 114 (02) :S16-S16
[4]   Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics [J].
Auray-Blais, Christiane ;
Boutin, Michel ;
Gagnon, Rene ;
Dupont, Felix O. ;
Lavoie, Pamela ;
Clarke, Joe T. R. .
ANALYTICAL CHEMISTRY, 2012, 84 (06) :2745-2753
[5]   An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper [J].
Auray-Blais, Christiane ;
Lavoie, Pamela ;
Zhang, Haoyue ;
Gagnon, Rene ;
Clarke, Joe T. R. ;
Maranda, Bruno ;
Young, Sarah P. ;
An, Yan ;
Millington, David S. .
CLINICA CHIMICA ACTA, 2012, 413 (7-8) :771-778
[6]   Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI [J].
Auray-Blais, Christiane ;
Bherer, Patrick ;
Gagnon, Rene ;
Young, Sarah P. ;
Zhang, Haoyue H. ;
An, Yan ;
Clarke, Joe T. R. ;
Millington, David S. .
MOLECULAR GENETICS AND METABOLISM, 2011, 102 (01) :49-56
[7]   Putative Biological Mechanisms of Efficiency of Substrate Reduction Therapies for Mucopolysaccharidoses [J].
Banecka-Majkutewicz, Zyta ;
Jakobkiewicz-Banecka, Joanna ;
Gabig-Ciminska, Magdalena ;
Wegrzyn, Alicja ;
Wegrzyn, Grzegorz .
ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS, 2012, 60 (06) :461-468
[8]   SCREENING FOR MUCOPOLYSACCHARIDE DISORDERS WITH THE BERRY SPOT-TEST [J].
BERRY, HK .
CLINICAL BIOCHEMISTRY, 1987, 20 (05) :365-371
[9]   Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility [J].
Clarke, Lorne A. ;
Winchester, Bryan ;
Giugliani, Roberto ;
Tylki-Szymanska, Anna ;
Amartino, Hernan .
MOLECULAR GENETICS AND METABOLISM, 2012, 106 (04) :395-402
[10]  
DEJONG JGN, 1989, CLIN CHEM, V35, P1472