The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: Evidence of presymptomatic kidney disease in pediatric fabry and type-I diabetic patients

Journal of Proteome Research

Volumn 12, Issue 5, 2013, Pages 2013-2021

  Manwaring, Victoria ^a   Heywood, Wendy E ^a   Clayton, Robert ^a   Lachmann, Robin H ^c   Keutzer, Joan ^d   Hindmarsh, Peter ^a   Winchester, Bryan ^a   Heales, Simon ^a,b   Mills, Kevin ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d GENZYME CORPORATION   (United States)

Author keywords

biomarker; Fabry disease; kidney disease; label free quantitative proteomics; monitoring treatment

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; BIOLOGICAL MARKER; CREATININE; GANGLIOSIDE GM2 ACTIVATOR PROTEIN; GLOBOTRIAOSYLCERAMIDE; PROSAPOSIN;

ADOLESCENT; ARTICLE; ASYMPTOMATIC DISEASE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; ENZYME REPLACEMENT; FABRY DISEASE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; KIDNEY DISEASE; MALE; PATIENT MONITORING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN URINE LEVEL; PROTEOMICS; QUANTITATIVE ANALYSIS; SCHOOL CHILD; TANDEM MASS SPECTROMETRY; TREATMENT RESPONSE; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; VALIDITY;

ADOLESCENT; ASYMPTOMATIC DISEASES; BIOLOGICAL MARKERS; CHILD; CHROMATOGRAPHY, LIQUID; DIABETES MELLITUS, TYPE 1; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; G(M2) ACTIVATOR PROTEIN; HUMANS; MALE; PROTEINURIA; PROTEOME; REFERENCE STANDARDS; SAPOSINS; TANDEM MASS SPECTROMETRY; TREATMENT OUTCOME;

EID: 84877113572     PISSN: 15353893     EISSN: 15353907     Source Type: Journal    
DOI: 10.1021/pr301200e     Document Type: Article

References (34)

1. Bishop, D. F.; Kornreich, R.; Desnick, R. J. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3′ untranslated region Proc. Natl. Acad. Sci. U. S. A. 1988, 85 (11) 3903-7
2. Zarate, Y. A.; Hopkin, R. J. Fabry's disease Lancet 2008, 372 (9647) 1427-35
3. Schiffmann, R. Fabry disease Pharmacol. Ther. 2009, 122 (1) 65-77
4. Elstein, D.; Altarescu, G.; Beck, M. Fabry Disease; Springer: New York, 2010.
5. O'Mahony, C.; Elliott, P. Anderson-Fabry Disease and the Heart Prog. Cardiovasc. Dis. 2010, 52 (4) 326-35
6. Tanaka, A.; Takeda, T.; Hoshina, T.; Fukai, K.; Yamano, T. Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha J. Inherited Metab. Dis. 2010, 10.1007/s10545-010-9136-0
7. MacDermot, K. D.; Holmes, A.; Miners, A. H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males J. Med. Genet. 2001, 38 (11) 750-60
8. Spada, M.; Pagliardini, S.; Yasuda, M.; Tukel, T.; Thiagarajan, G.; Sakuraba, H. High incidence of later-onset Fabry disease revealed by newborn screening Am. J. Hum. Genet. 2006, 79 (1) 31-40
9. Mehta, A.; Ricci, R.; Widmer, U.; Dehout, F.; Garcia de Lorenzo, A.; Kampmann, C. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey Eur. J. Clin. Invest. 2004, 34 (3) 236-42
10. Warnock, D.; Ortiz, A.; Mauer, M.; Linthorst, G.; Olivera, J.; Serra, A. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation Nephrol., Dial., Transplant. 2012, 27 (3) 1042-9
11. Hughes, D. A.; Elliott, P. M.; Shah, J.; Zuckerman, J.; Coghlan, G.; Brookes, J. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa Heart 2008, 94 (2) 153-8
12. Ramaswami, U.; Pairini, R.; Pintos-Morell, G.; Kalkum, G.; Kampmann, C.; Beck, M. Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey Clin. Genet. 2012, 81 (5) 485-90
13. Hollak, C.; Weely, S.; Van Oers, M.; Aerts, J. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease J. Clin. Invest. 1994, 93 (3) 1288-92
14. Manwaring, V.; Prunty, H.; Bainbridge, K.; Burke, D.; Finnegan, N.; Franses, R. Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pome and other glycogen storage diseases J. Inherited Metab. Dis. 2012, 35 (2) 311-6
15. Young, E.; Mills, K.; Morris, P.; Vellodi, A.; Lee, P.; Waldek, S. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr., Suppl. 2005, 94 (447) 51-4
16. Mills, K.; Vellodi, A.; Morris, P.; Cooper, D.; Morris, M.; Young, E.; Winchester, B. Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease Eur. J. Pediatr. 2004, 163 (10) 595-603
17. Mills, K.; Morris, P.; Lee, P.; Vellodi, A.; Waldek, S.; Young, E. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease J. Inherited Metab. Dis. 2005, 28 (1) 35-48
18. Aerts, J. M.; Groener, J. E.; Kuiper, S.; Donker-Koopman, W. E.; Strijland, A.; Ottenhoff, R. Elevated globotriaosylsphingosine is a hallmark of Fabry disease Proc. Natl. Acad. Sci. U. S. A. 2008, 105 (8) 2812-7
19. Auray-Blais, C.; Ntwari, A.; Clarke, J. T. R.; Warnock, D. G.; Oliveira, J. P.; Young, S. P. How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin. Chim. Acta 2010, 411 (23-24) 1906-14
20. Sharma, G.; Muller, D.; Dattani, M.; O'Riordan, S.; Hindmarsh, P.; Mills, K. Urinary conjugated metabolites of α-Tocopheronolactone-a biomarker of oxidative stress in children type 1 diabetes Free Radical Biol. Med. 2012, 55C, 54-62
21. Smith, P. K.; Krohn, R. I.; Hermanson, G. T.; Mallia, A. K.; Gartner, F. H.; Provenzano, M. D. Measurement of protein using bicinchoninic acid Anal. Biochem. 1985, 150 (1) 76-85
22. Bennett, K.; Callard, R.; Heywood, W.; Harper, J.; Jayakumar, A.; Clayman, G. L. New role for LEKTI in skin barrier formation: label-free quantitative proteomic identification of caspase 14 as a novel target for the protease inhibitor LEKTI J. Proteome Res. 2010, 9 (8) 4289-94
23. Heywood, W.; Wang, D.; Madgett, T.; Avent, N.; Eaton, S.; Chitty, L. The development of a peptide SRM-based tandem mass spectrometry assay for prenatal screening of Down syndrome J. Proteomics 2012, 75 (11) 3248-57
24. Decramer, S.; de Peredo, A. G.; Breuil, B.; Mischak, H.; Monsarrat, B.; Bascands, J.-L. Urine in clinical proteomics Mol. Cell. Proteomics 2008, 7 (10) 1850-62
25. Kishimoto, Y.; Hiraiwa, M.; O'Brien, J. S. Saposins: structure, function, distribution, and molecular genetics J. Lipid Res. 1992, 33 (9) 1255-67
26. Chang, M. H. Y.; Bindloss, C. A.; Grabowski, G. A.; Qi, X.; Winchester, B.; Hopwood, J. J. Saposins A, B, C, and D in plasma of patients with lysosomal storage disorders Clin. Chem. 2000, 46 (2) 167-74
27. Morimoto, S.; Yamamoto, Y.; O'Brien, J. S.; Kishimoto, Y. Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases Proc. Natl. Acad. Sci. U. S. A. 1990, 87 (9) 3493-7
28. Hiraiwa, M.; Martin, B.; Kishimoto, Y.; Conner, G.; Tsuji, S. Lysosomal proteolysis of prosaposin, the precursor of saposins (sphingolipid activator proteins): its mechanism and inhibition by ganglioside Arch. Biochem. Biophys. 1997, 341 (1) 17-24
29. Bradova, V.; Smid, F.; Ulrich-Bott, B.; Roggendorf, W.; Paton, B. Prosaposin deficiency: further characteristation of the sphingolipid activator protein-deficient sibs Mulitple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalised sphingolipid storage disease Hum. Genet. 1993, 92 (2) 143-52
30. Rigat, B.; Yeger, H.; Shehnaz, D.; Mahuran, D. GM2 activator protein inhibits platelet activating factor signalling in rats Biochem. Biophys. Res. Commun. 2009, 385 (4) 576-80
31. Lindsberg, P.; Hallenbeck, J. M.; Feuerstein, G. Platelet-activating factor in stroke and brain injury Ann. Neurol. 1991, 30 (2) 117-29
32. Frangogiannis, N.; Smith, W.; Entman, M. The inflammatory response in myocardial infarction Cardiovasc. Res. 2002, 53 (1) 31-47
33. Callea, L.; Arese, M.; Orlandini, A.; Bargnani, C.; Prioii, A. Platelet activating factor is elevated in cerebral spinal fluid and plasma of patients with relapsing-remitting multiple sclerosis J. Neuroimmunol. 1999, 94 (1-2) 212-21
34. Higashi, K.; Kubo, H.; Watanabe, H.; Fujimori, K.; Mikami, T.; Kaneko, H. Adipokine ganglioside GM2 activator protein stimulates insulin secretion FEBS Lett. 2011, 585 (16) 2587-91