N-glycan abnormalities in children with galactosemia

Journal of Proteome Research

Volumn 13, Issue 2, 2014, Pages 385-394

  Coss, Karen P ^a   Hawkes, Colin P ^b   Adamczyk, Barbara ^c   Stöckmann, Henning ^c   Crushell, Ellen ^b   Saldova, Radka ^c   Knerr, Ina ^b   Rubio Gozalbo, Maria E ^d   Monavari, Ardeshir A ^b   Rudd, Pauline M ^c   Treacy, Eileen P ^b,e  

^a MATER MISERICORDIAE UNIVERSITY HOSPITAL   (Ireland)

^b CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^c NATIONAL INSTITUTE FOR BIOPROCESSING RESEARCH AND TRAINING   (Ireland)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^e TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

children; galactosemia; glycan analysis; HILIC UPLC; IgG; N glycan processing abnormalities

Indexed keywords

ADOLESCENT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, LIQUID; FEMALE; GALACTOSEMIAS; HUMANS; INFANT; MALE; POLYSACCHARIDES;

EID: 84893869670     PISSN: 15353893     EISSN: 15353907     Source Type: Journal    
DOI: 10.1021/pr4008305     Document Type: Article

References (59)

1. Fridovich-Keil, J. L.; Walter, J. H. Galactosaemia Chapter 72. In The Online Metabolic and Molecular Bases of Inherited Disease, OMMBID; McGraw Hill: New York, 2008.
2. Coss, K. P. IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia Mol. Genet. Metab. 2012, 105, 212-220
3. Hughes, J. Outcomes of siblings with classical galactosemia J. Pediatr. 2009, 154, 721-726
4. Hutchesson, A. C. Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations J. Inherited Metab. Dis. 1999, 22, 139-148
5. Krabbi, K.; Uudelepp, M. L.; Joost, K.; Zordania, R.; Ounap, K. Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control Mol. Genet. Metab. 2011, 103 (3) 249-253
6. Coman, D. J. Galactosemia, a single gene disorder with epigenetic consequences Pediatr. Res. 2010, 67, 286-92
7. Widger, J.; O'Toole, J.; Geoghegan, O.; O'Keefe, M.; Manning, R. Diet and visually significant cataracts in galactosaemia: is regular follow up necessary? J. Inherited Metab. Dis. 2010, 33, 129-132
8. Coss, K. P. Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment J. Inherited Metab. Dis. 2013, 36, 21-27
9. Schweitzer, S.; Shin, Y.; Jakobs, C.; Brodehl, J. Long-term outcome in 134 patients with galactosaemia Eur. J. Pediatr. 1993, 152, 36-43
10. Waggoner, D. D.; Buist, N. R.; Donnell, G. N. Long-term prognosis in galactosaemia: results of a survey of 350 cases J. Inherited Metab. Dis. 1990, 13, 802-818
11. Waisbren, S. The adult galactosemic phenotype J. Inherited Metab. Dis. 2012, 35, 279-286
12. Komrower, G. M.; Lee, D. H. Long-term follow-up of galactosaemia Arch. Dis. Child. 1970, 45, 367-373
13. Berry, G. T. Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia? J. Inherited Metab. Dis. 2011, 34, 345-355
14. Slepak, T. I.; Tang, M.; Slepak, V. Z.; Lai, K. Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model Mol. Genet. Metab. 2007, 92, 78-87
15. Braissant, O. Current concepts in the pathogenesis of urea cycle disorders Mol. Genet. Metab. 2010, 100 (Suppl 1) S3-S12
16. Lai, K.; Langley, S. D.; Khwaja, F. W.; Schmitt, E. W.; Elsas, L. J. GALT deficiency causes UDP-hexose deficit in human galactosemic cells Glycobiology 2003, 13, 285-294
17. Ng, W. G.; Xu, Y. K.; Kaufman, F. R.; Donnell, G. N. Deficit of uridine diphosphate galactose in galactosaemia J. Inherited Metab. Dis. 1989, 12, 257-266
18. Gibson, J. B. Sugar nucleotide concentrations in red blood cells of patients on protein- and lactose-limited diets: effect of galactose supplementation Am. J. Clin. Nutr. 1996, 63, 704-708
19. Keevill, N. J.; Holton, J. B.; Allen, J. T. The investigation of UDPGlucose and UDPGalactose concentration in red blood cells of patients with classical galactosaemia Clin. Chim. Acta 1993, 221, 135-142
20. Keevill, N. J.; Holton, J. B.; Allen, J. T. UDP-glucose and UDP-galactose concentrations in cultured skin fibroblasts of patients with classical galactosaemia J. Inherited Metab. Dis. 1994, 17, 23-26
21. Gibson, J. B. Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders Metabolism 1995, 44, 597-604
22. Freeze, H. H. Genetic defects in the human glycome Nat. Rev. Genet. 2006, 7, 537-551
23. Jaeken, J.; Carchon, H. The carbohydrate-deficient glycoprotein syndromes: an overview J. Inherited Metab. Dis. 1993, 16, 813-820
24. Quintana, E. Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF) Clin. Biochem. 2009, 42, 408-415
25. Stibler, H.; von Dobeln, U.; Kristiansson, B.; Guthenberg, C. Carbohydrate-deficient transferrin in galactosaemia Acta Paediatr. 1997, 86, 1377-1378
26. Sturiale, L. Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia Glycobiology 2005, 15, 1268-1276
27. Charlwood, J.; Clayton, P.; Keir, G.; Mian, N.; Winchester, B. Defective galactosylation of serum transferrin in galactosemia Glycobiology 1998, 8, 351-357
28. Liu, Y. N- and O-linked glycosylation of total plasma glycoproteins in galactosemia Mol. Genet. Metab. 2012, 106, 442-454
29. Arnold, J. N. Novel glycan biomarkers for the detection of lung cancer J. Proteome Res. 2011, 10, 1755-1764
30. Saldova, R.; Wormald, M. R.; Dwek, R. A.; Rudd, P. M. Glycosylation changes on serum glycoproteins in ovarian cancer may contribute to disease pathogenesis Dis. Markers 2008, 25, 219-232
31. Thanabalasingham, G. Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile Diabetes 2013, 62, 1329-1337
32. Youings, A.; Chang, S. C.; Dwek, R. A.; Scragg, I. G. Site-specific glycosylation of human immunoglobulin G is altered in four rheumatoid arthritis patients Biochem. J. 1996, 314 (Pt 2) 621-630
33. Royle, L. HPLC-based analysis of serum N-glycans on a 96-well plate platform with dedicated database software Anal. Biochem. 2008, 376, 1-12
34. Royle, L.; Radcliffe, C. M.; Dwek, R. A.; Rudd, P. M. Detailed structural analysis of N-glycans released from glycoproteins in SDS-PAGE gel bands using HPLC combined with exoglycosidase array digestions Methods Mol. Biol. 2006, 347, 125-143
35. Pucic, M. High throughput isolation and glycosylation analysis of IgG-variability and heritability of the IgG glycome in three isolated human populations Mol. Cell. Proteomics 2011, 10 (M111) 010090
36. Knezevic, A. Variability, heritability and environmental determinants of human plasma N-glycome J. Proteome Res. 2009, 8, 694-701
37. Gornik, O. Stability of N-glycan profiles in human plasma Glycobiology 2009, 19, 1547-1553
38. Pucic, M. Changes in plasma and IgG N-glycome during childhood and adolescence Glycobiology 2012, 22, 975-982
39. Yamada, E.; Tsukamoto, Y.; Sasaki, R.; Yagyu, K.; Takahashi, N. Structural changes of immunoglobulin G oligosaccharides with age in healthy human serum Glycoconjugate J. 1997, 14, 401-405
40. Crushell, E.; Chukwu, J.; Mayne, P.; Blatny, J.; Treacy, E. P. Negative screening tests in classical galactosaemia caused by S135L homozygosity J. Inherited Metab. Dis. 2009, 32, 412-415
41. Stockmann, H.; Adamczyk, B.; Hayes, J.; Rudd, P. M. Automated, High-Throughput IgG-Antibody Glycoprofiling Platform Anal. Chem. 2013, 85, 8841-8849
42. Bigge, J. C. Nonselective and efficient fluorescent labeling of glycans using 2-amino benzamide and anthranilic acid Anal. Biochem. 1995, 230, 229-238
43. Kuster, B.; Wheeler, S. F.; Hunter, A. P.; Dwek, R. A.; Harvey, D. J. Sequencing of N-linked oligosaccharides directly from protein gels: in-gel deglycosylation followed by matrix-assisted laser desorption/ionization mass spectrometry and normal-phase high-performance liquid chromatography Anal. Biochem. 1997, 250, 82-101
44. Huhn, C.; Selman, M. H.; Ruhaak, L. R.; Deelder, A. M.; Wuhrer, M. IgG glycosylation analysis Proteomics 2009, 9, 882-913
45. Harvey, D. J. Proposal for a standard system for drawing structural diagrams of N- and O-linked carbohydrates and related compounds Proteomics 2009, 9, 3796-3801
46. Ahn, J.; Bones, J.; Yu, Y. Q.; Rudd, P. M.; Gilar, M. Separation of 2-aminobenzamide labeled glycans using hydrophilic interaction chromatography columns packed with 1.7μm sorbent J. Chromatogr., B 2010, 878, 403-408
47. Parekh, R.; Roitt, I.; Isenberg, D.; Dwek, R.; Rademacher, T. Age-related galactosylation of the N-linked oligosaccharides of human serum IgG J. Exp. Med. 1988, 167, 1731-1736
48. Butler, M. Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis Glycobiology 2003, 13, 601-622
49. Perez, B. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene J. Inherited Metab. Dis. 2013, 36, 535-542
50. Lefeber, D.; Morava, E.; Jaeken, J. How to find and diagnose a CDG due to defective N-glycosylation J. Inherited Metab. Dis. 2011, 34, 849-852
51. Chaudhuri, T. K.; Paul, S. Protein-misfolding diseases and chaperone-based therapeutic approaches FEBS J. 2006, 273, 1331-1349
52. Koch, T. K.; Schmidt, K. A.; Wagstaff, J. E.; Ng, W. G.; Packman, S. Neurologic complications in galactosemia Pediatr. Neurol. 1992, 8, 217-220
53. Lebea, P. J.; Pretorius, P. J. The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia Med. Hypotheses 2005, 65, 1051-1057
54. Petry, K. Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes Biochem. Med. Metab. Biol. 1991, 46, 93-104
55. Jez, J. Significant Impact of Single N-Glycan Residues on the Biological Activity of Fc-based Antibody-like Fragments J. Biol. Chem. 2012, 287, 24313-24319
56. Horvat, T.; Zoldos, V.; Lauc, G. Evolutional and clinical implications of the epigenetic regulation of protein glycosylation Clin. Epigenet. 2011, 2, 425-432
57. Elliott, S.; Lorenzini, T.; Asher, S.; Aoki, K.; Brankow, D.; Buck, L.; Busse, L.; Chang, D.; Fuller, J.; Grant, J.; Hernday, N.; Hokum, M.; Hu, S.; Knudten, A.; Levin, N.; Komorowski, R.; Martin, F.; Navarro, R.; Osslund, T.; Rogers, G.; Rogers, N.; Trail, G.; Egrie, J. Nat. Biotechnol. 2003, 21, 414-421
58. Perlman, S. Glycosylation of an N-terminal extension prolongs the half-life and increases the in vivo activity of follicle stimulating hormone J. Clin. Endocrinol. Metab. 2003, 88, 3227-3235
59. Knerr, I. Leptin levels in children and adults with classic galactosaemia JIMD Rep. 2013, 9, 125-131