High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

Translational Research

Volumn 166, Issue 6, 2015, Pages 639-649.e1

  Van Scherpenzeel, Monique ^a   Steenbergen, Gerry ^a   Morava, Eva ^a,b   Wevers, Ron A ^a   Lefeber, Dirk J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Abbreviations ApoCIII apolipoprotein CIII; ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2; B4GALT1 1,4 galactosyltransferase 1; CDG Congenital Disorders of Glycosylation; CE Capillary electrophoresis; CMP cytidine monophosphate; COG1 component of oligomeric Golgi complex 1; CV Coefficient of variation; DPAGT1 dolichyl phosphate (UDP N acetylglucosamine) N acetylglucosaminephosphotransferase 1; EDTA Ethylenediaminetetraacetic acid; ESI Electron spray ionization; GDP guanosine diphosphate; HPLC High pressure liquid chromatography; HUS Hemolytic uremic syndrome; IEF Isoelectric focusing; LC Liquid Chromatography; MALDI Matrix assisted laser desorption ionization; MAN1B1 mannosyl oligosaccharide 1,2 alpha mannosidase; MGAT2 mannosyl( 1,6 ) glycoprotein 1,2 N acetylglucosaminyltransferase; MS Mass spectrometry; NHS N Hydroxysuccinimidyl; PGM1 Phosphoglucomutase 1; PMM2 phosphomannomutase 2; QTOF Quadrupole Time Of Flight; SLC35A1 CMP sialic acid transporter; SLC35A2 UDP galactose transporter; SLC35C1 GDP fucose transporter; Tf transferrin; TIEF Transferrin Isoelectric focusing; TMEM165 transmembrane protein 165; Tris 2 Amino 2 (hydroxymethyl) 1,3 propanediol; UDP uridine disphosphate; VPS13B vacuolar protein sorting 13 homolog B

Indexed keywords

BETA 1,4 GALACTOSYLTRANSFERASE 1; CMP SIALIC ACID TRANSPORTER; GLYCAN; MANNOSYL (ALPHA 1,6) GLYCOPROTEIN BETA 1,2 N ACETYLGLUCOSAMINYLTRANSFERASE; MANNOSYL OLIGOSACCHARIDE 1,2 ALPHA MANNOSIDASE; MEMBRANE PROTEIN; N ACETYLGLUCOSAMINYLTRANSFERASE; PHOSPHOGLUCOMUTASE; PHOSPHOMANNOMUTASE 2; TRANSFERRIN; UDP GALACTOSE TRANSPORTER; UNCLASSIFIED DRUG;

ALCOHOL ABUSE; ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; FUCOSYLATION; GALACTOSEMIA; GLYCOSYLATION; GOLGI COMPLEX; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; MASS SPECTROMETRY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN PROCESSING; PROTEIN PURIFICATION; REFERENCE VALUE; REPRODUCIBILITY; TIME OF FLIGHT MASS SPECTROMETRY; CLASSIFICATION; CONGENITAL DISORDERS OF GLYCOSYLATION; PROCEDURES;

CONGENITAL DISORDERS OF GLYCOSYLATION; HUMANS; MASS SPECTROMETRY; TRANSFERRIN;

EID: 84952308445     PISSN: 19315244     EISSN: 18781810     Source Type: Journal    
DOI: 10.1016/j.trsl.2015.07.005     Document Type: Article

References (39)

1. D. Fu, and H. Van Halbeek N-glycosylation site mapping of human serotransferrin by serial lectin affinity chromatography, fast atom bombardment-mass spectrometry, and 1H nuclear magnetic resonance spectroscopy Anal Biochem 206 1992 53 63
2. E. Marklovà, and Z. Albahri Screening and diagnosis of congenital disorders of glycosylation Clin Chim Acta 385 2007 6 20
3. J. Allen, R. Litten, R. Anton, and G. Cross Carbohydrate-deficient transferrin as a measure of immoderate drinking: Remaining issues Alcohol Clin Exp Res 18 1994 799 812
4. P. Sillanaukee, and U. Olsson Improved diagnostic classification of alcohol abusers by combining carbohydrate-deficient transferrin and gamma-glutamyltransferase Clin Chem 47 2001 681 685
5. H.H. Freeze, J.X. Chong, M.J. Bamshad, and B.G. Ng Solving glycosylation disorders: Fundamental approaches reveal complicated pathways Am J Hum Genet 94 2014 161 175
6. D.J. Lefeber, J. Schönberger, E. Morava, and et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies Am J Hum Genet 85 2009 76 86
7. M. Theodore, and E. Morava Congenital disorders of glycosylation: Sweet news Curr Opin Pediatr 23 2001 581 587
8. M. Mohamed, M. Guillard, S.B. Wortmann, and et al. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern Biochim Biophys Acta 1812 2011 691 698
9. A. Helander, A. Husa, and J.O. Jeppsson Improved HPLC method for carbohydrate-deficient transferrin in serum Clin Chem 49 2003 1881 1890
10. C. Lanz, J.B. Falmagne, F. de l'Escaille, U. Marti, and W. Thormann Determination of carbohydrate-deficient transferrin in human serum with capillary zone electrophoresis: Sample preparation strategies for the removal of interferences caused by increased levels of immunoglobulins J Chromatogr A 1206 2008 33 40
11. H.A. Carchon, R. Chevigné, J.B. Falmagne, and J. Jaeken Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin Clin Chem 50 2004 101 111
12. V. Sanz-Nebot, E. Balaguer, F. Benavente, C. Neusüss, and J. Barbosa Characterization of transferrin glycoforms in human serum by CE-UV and CE-ESI-MS Electrophoresis 28 2007 1949 1957
13. L. Sturiale, R. Barone, A. Palmigiano, and et al. Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS Proteomics 8 2008 3822 3832
14. J.M. Lacey, H.R. Bergen, M.J. Magera, S. Naylor, and J.F. O'Brien Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry Clin Chem 47 2001 513 518
15. S.H. Hahn, S.J. Minnich, and J.F. O'Brien Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia J Inherit Metab Dis 29 2006 235 237
16. Y. Wada, M. Tajiri, and S. Yoshida Hydrophilic affinity isolation and MALDI multiple-stage tandem mass spectrometry of glycopeptides for glycoproteomics Anal Chem 76 2004 6560 6565
17. Y. Wada Mass spectrometry for congenital disorders of glycosylation, CDG J Chromatogr B Analyt Technol Biomed Life Sci 838 2006 3 8
18. V. Faid, F. Chirat, N. Seta, F. Foulquier, and W. Morelle A rapid mass spectrometric strategy for the characterization of N- A nd O-glycan chains in the diagnosis of defects in glycan biosynthesis Proteomics 7 2007 1800 1813
19. M. Guillard, E. Morava, F.L. van Delft, and et al. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II Clin Chem 57 2011 593 602
20. P.B. Mills, K. Mills, N. Mian, B.G. Winchester, and P.T. Clayton Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx J Inherit Metab Dis 26 2003 119 134
21. W. Morelle, and J.C. Michalski Analysis of protein glycosylation by mass spectrometry Nat Protoc 2 2007 1585 1602
22. S. Wopereis, S. Grünewald, K.M. Huijben, and et al. Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- A nd O-glycan biosynthesis defects Clin Chem 53 2007 180 187
23. A. Van Campenhout, C. Van Campenhout, Y.S. Olyslager, O. Van Damme, A.R. Lagrou, and B. Manuel-y-Keenoy A novel method to quantify in vivo transferrin glycation: Applications in diabetes mellitus Clin Chim Acta 370 2006 115 123
24. P.L. Lee, N.J. Ho, R. Olson, and E. Beutler The effect of transferrin polymorphisms on iron metabolism Blood Cells Mol Dis 25 1999 374 379
25. I. Kasvosve, J.R. Delanghe, Z.A. Gomo, and et al. Transferrin polymorphism influences iron status in blacks Clin Chem 46 2000 1535 1539
26. M. Guillard, Y. Wada, H. Hansikova, and et al. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I J Inherit Metab Dis 34 2011 901 906
27. L. Sturiale, R. Barone, A. Fiumara, and et al. Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia Glycobiology 15 2005 1268 1276
28. S. Timal, A. Hoischen, L. Lehle, and et al. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing Hum Mol Genet 21 2012 4151 4161
29. Z. Iqbal, M. Shahzad, L.E. Vissers, and et al. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype Eur J Hum Genet 21 2013 844 849
30. S. Vermeer, H.P. Kremer, Q.H. Leijten, and et al. Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening J Neurol 254 2007 1356 1358
31. L.C. Tegtmeyer, S. Rust, M. Van Scherpenzeel, and et al. Phosphoglucomutase 1 deficiency-clinical phenotype, molecular basis and treatment N Engl J Med 370 2014 533 542
32. B. Pérez, C. Medrano, M.J. Ecay, and et al. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene J Inherit Metab Dis 36 2013 535 542
33. M. Guillard, E. Morava, J. de Ruijter, and et al. B4GalT1-congenital disorders of glycosylation presents as a non-neurological glycosylation disorder with hepatointestinal involvement J Pediatr 159 2011 1041 1043
34. M. Mohamed, A. Ashikov, M. Guillard, and et al. Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport Neurology 81 2013 681 687
35. B.G. Ng, K.J. Buckingham, K. Raymond, and et al. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation Am J Hum Genet 92 2013 632 636
36. D. Rymen, R. Peanne, M.B. Millón, and et al. MAN1B1 deficiency: An unexpected CDG-II PLoS Genet 9 2013 e1003989
37. M. Van Scherpenzeel, S. Timal, D. Rymen, and et al. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency Brain 137 2014 1030 1038
38. B. Xia, W. Zhang, X. Li, and et al. Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation Anal Biochem 442 2013 178 185
39. L. Duplomb, S. Duvet, D. Picot, and et al. Cohen syndrome is associated with major glycosylation defects Hum Mol Genet 23 2014 2391 2399