N- and O-linked glycosylation of total plasma glycoproteins in galactosemia

Molecular Genetics and Metabolism

Volumn 106, Issue 4, 2012, Pages 442-454

  Liu, Ying ^a   Xia, Baoyun ^a   Gleason, Tyler J ^a   Castañeda, Uriel ^a   He, Miao ^a   Berry, Gerard T ^b   Fridovich Keil, Judith L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Classic galactosemia; LC MS MS; MALDI TOF; N glycome; O glycome; Plasma

Indexed keywords

GALACTOSE; GLYCOPROTEIN; PLASMA PROTEIN;

AGE; ARTICLE; CELL ACTIVITY; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GALACTOSEMIA; GENDER; GENOTYPE; GLYCOSYLATION; HUMAN; INFANT; INTESTINE LYMPHATIC TISSUE; MASS SPECTROMETRY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL;

ADULT; CHILD; CHILD, PRESCHOOL; DIET; FEMALE; GALACTOSE; GALACTOSEMIAS; GLYCOPROTEINS; GLYCOSYLATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; POLYSACCHARIDES; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; TREATMENT OUTCOME; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 84864353995     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.05.025     Document Type: Article

References (35)

1. Fridovich-Keil J.L., Walter J.H. Galactosemia. The Online Metabolic & Molecular Bases of Inherited Disease 2008, McGraw Hill, pp. http://www.ommbid.com/. D. Valle, A. Beaudet, B. Vogelstein, K. Kinzler, S. Antonarakis (Eds.).
2. Holden H.M., Rayment I., Thoden J.B. Structure and function of enzymes of the Leloir pathway for galactose metabolism. J. Biol. Chem. 2003, 278:43885-43888.
3. Haberland C., Perou M., Brunngraber E.G., Hof H. The neuropathology of galactosemia. A histopathological and biochemical study. J. Neuropathol. Exp. Neurol. 1971, 30:431-447.
4. Witting L., Haberland C., Brunngraber E. Ganglioside patterns in galactosemia. Clin. Chim. Acta 1972, 37:387-389.
5. Petry K., Greinix H.T., Nudelman E., Eisen H., Hakomori S., et al. 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.
6. Jaeken J., Kint J., Spaapen L. Serum lysosomal enzyme abnormalities in galactosaemia. Lancet 1992, 340:1472-1473.
7. Dobbie J.A., Holton J.B., Clamp J.R. Defective galactosylation of proteins in cultured skin fibroblasts from galactosaemic patients. Ann. Clin. Biochem. 1990, 27:274-275.
8. Ornstein K.S., McGuire E.J., Berry G.T., Roth S., Segal S. Abnormal galactosylation of complex carbohydrates in cultured fibroblasts fom patients with galactose-1-phosphate uridyltransferase deficiency. Pediatr. Res. 1992, 31:508-511.
9. Stibler H., von Dobeln U., Kristiansson B., Guthenberg C. Carbohydrate-deficient transferrin in galactosaemia. Acta Paediatr. 1997, 86:1377-1378.
10. Charlwood J., Clayton P., Keir G., Mian N., Winchester B. Defective galactosylation of serum transferrin in galactosemia. Glycobiology 1998, 8:351-357.
11. Sturiale L., Barone R., Fiumara A., Perez M., Zaffanello M., et al. Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology 2005, 15:1268-1276.
12. Quintana E., Navarro-Sastre A., Hernández-Pérez J., García-Villoria J., Montero R., et al. Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF). Clin. Biochem. 2009, 42:408-415.
13. Coman D., Murray D., Byrne J., Rudd P., Bagaglia P., et al. Galactosemia, a single gene disorder with epigenetic consequences. Pediatr. Res. 2010, 67:286-292.
14. Coss K., Byrne J., Coman D., Adamczyk B., Abrahams J., et al. IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia. Mol. Genet. Metab. 2012, 105:212-220.
15. Staubach S., Schadewaldt P., Wendel U., Nohroudi K., Hanisch F.-G. Differential glycomics of epithelial membrane glycoproteins from urinary exovesicles reveals shifts toward complex-type N-glycosylation in classical galactosemia. J. Proteome Res. 2012, 11:906-916.
16. Guillard M., Morava E., van Delft F., Hague R., Körner C., et al. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin. Chem. 2011, 57:593-602.
17. Knezevic A., Gornik O., Polasek O., Pucic M., Redzic I., et al. Effects of aging, body mass index, plasma lipid profiles, and smoking on human plasma N-glycans. Glycobiology 2010, 20:959-969.
18. Fridovich-Keil J., Gubbels C., Spencer J., Sanders R., Land J., et al. Ovarian function in girls and women with GALT-deficiency galactosemia. J. Inherit. Metab. Dis. 2011, 34:357-366.
19. Sanders R., Spencer J., Epstein M., Pollak S., Vardhana P., et al. Biomarkers of ovarian function in girls and women with classic galactosemia. Fertil. Steril. 2009, 92:344-351.
20. Waisbren S., Potter N., Gordon C., Green R., Greenstein P., et al. The adult galactosemic phenotype. J. Inherit. Metab. Dis. 2012, 35:279-286.
21. Morelle W., Flahaut C., Michalski J.C., Louvet A., Mathurin P., et al. Mass spectrometric approach for screening modifications of total serum N-glycome in human diseases: application to cirrhosis. Glycobiology 2006, 16:281-293.
22. Carlson D.M. Structures and immunochemical properties of oligosaccharides isolated from pig submaxillary mucins. J. Biol. Chem. 1968, 243:616-626.
23. Chhay J., Openo K., Eaton J., Gentile M., Fridovich-Keil J. A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family. J. Inherit. Metab. Dis. 2008, 31:97-107.
24. Morelle W., Slomianny M.C., Diemer H., Schaeffer C., van Dorsselaer A., et al. Fragmentation characteristics of permethylated oligosaccharides using a matrix-assisted laser desorption/ionization two-stage time-of-flight (TOF/TOF) tandem mass spectrometer. Rapid Commun. Mass Spectrom. 2004, 18:2637-2649.
25. Faid V., Chirat F., Seta N., Foulquier F., Morelle W. A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis. Proteomics 2007, 7:1800-1813.
26. Morelle W., Faid V., Chirat F., Michalski J.C. Analysis of N- and O-linked glycans from glycoproteins using MALDI-TOF mass spectrometry. Methods Mol. Biol. 2009, 534:5-21.
27. Fridovich-Keil J.L., Langley S.D., Mazur L.A., Lennon J.C., Dembure P.P., et al. Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. Am. J. Hum. Genet. 1995, 56:640-646.
28. Reichardt J.K.V., Levy H.L., Woo S.L. Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. Biochemistry 1992, 31:5430-5433.
29. Hughes J., Ryan S., Lambert D., Geoghegan O., Clark A., et al. Outcomes of siblings with classical galactosemia. J. Pediatr. 2009, 154:721-726.
30. Hagen C.P., Aksglaede L., Sorensen K., Main K.M., Boas M., et al. Serum levels of anti-Mullerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients. J. Clin. Endocrinol. Metab. 2010, 95:5003-5010.
31. La Marca A., Sighinolfi G., Radi D., Argento C., Baraldi E., et al. Anti-'Mullerian hormone (AMH) as a predictive marker in assisted reproductive technology (ART). Hum. Reprod. Update 2010, 16:113-130.
32. Fridovich-Keil J.L., Jinks-Robertson S. A yeast expression system for human galactose-1-phosphate uridylyltransferase. Proc. Natl. Acad. Sci. U. S. A. 1993, 90:398-402.
33. Riehman K., Crews C., Fridovich-Keil J.L. Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase. J. Biol. Chem. 2001, 276:10634-10640.
34. Prestoz L., Couto A., Shin Y., Petry K. Altered follicle stimulating hormone isoforms in female galactosaemia patients. Eur. J. Pediatr. 1997, 156:116-120.
35. Gubbels C., Thomas C., Wodzig W., Olthaar A., Jaeken J., et al. FSH isoform pattern in classic galactosemia. J. Inherit. Metab. Dis. 2011, 34:387-390.