Glucosylsphingosine is a key biomarker of Gaucher disease

American Journal of Hematology

Volumn 91, Issue 11, 2016, Pages 1082-1089

  Murugesan, Vagishwari ^a   Chuang, Wei Lien ^b   Liu, Jun ^a   Lischuk, Andrew ^a   Kacena, Katherine ^c   Lin, Haiqun ^d   Pastores, Gregory M ^e   Yang, Ruhua ^a   Keutzer, Joan ^b   Zhang, Kate ^b   Mistry, Pramod K ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SANOFI   (France)

^c Kacena Consulting   (United States)

^d YALE UNIVERSITY   (United States)

^e NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHITOTRIOSIDASE; ELIGLUSTAT; GLUCOSYLCERAMIDE; IMIGLUCERASE; BIOLOGICAL MARKER; PSYCHOSINE; PYRROLIDINE DERIVATIVE; SPHINGOSYL BETA-GLUCOSIDE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL INDICATOR; COMPARATIVE STUDY; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE SEVERITY; ENZYME REPLACEMENT; FEMALE; GAUCHER DISEASE; HEPATOMEGALY; HUMAN; LIQUID CHROMATOGRAPHY; LIVER WEIGHT; LONG TERM CARE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SPLENECTOMY; SPLENOMEGALY; TANDEM MASS SPECTROMETRY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; ANALOGS AND DERIVATIVES; BLOOD; INFANT; MIDDLE AGED; PRESCHOOL CHILD; PROPENSITY SCORE; YOUNG ADULT;

ADOLESCENT; ADULT; BIOMARKERS; CHILD; CHILD, PRESCHOOL; ENZYME REPLACEMENT THERAPY; FEMALE; GAUCHER DISEASE; HUMANS; INFANT; MALE; MIDDLE AGED; PROPENSITY SCORE; PSYCHOSINE; PYRROLIDINES; YOUNG ADULT;

EID: 84991833314     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.24491     Document Type: Article

References (42)

1. Mistry PK, Belmatoug N, vom Dahl S, et al. Understanding the natural history of Gaucher disease. Am J Hematol 2015;90:S6–S11.
2. Cox TM, Cachon-Gonzalez MB. The cellular pathology of lysosomal diseases. J Pathol 2012;226:241–254.
3. Beutler E, Gelbart T, Kuhl W, et al. Mutations in Jewish patients with Gaucher disease. Blood 1992;79:1662–1666.
4. Beutler E, Gelbart T. Gaucher disease mutations in non-Jewish patients. Br J Haematol 1993;85:401–405.
5. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet (London, England) 2008;372:1263–1271.
6. Cox TM. Gaucher disease: Understanding the molecular pathogenesis of sphingolipidoses. J Inherited Metab Dis 2001;24:106–121. discussion 187-108.
7. Nilsson O, Mansson JE, Hakansson G, et al. The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease. Biochim Et Biophys Acta 1982;712:453–463.
8. Orvisky E, Sidransky E, McKinney CE, et al. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res 2000;48:233–237.
9. Mistry PK, Liu J, Sun L, et al. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proc Natl Acad Sci USA 2014;111:4934–4939.
10. Nair S, Boddupalli CS, Verma R, et al. Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation. Blood 2015;125:1256–1271.
11. Mistry PK, Liu J, Yang M, et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci USA 2010;107:19473–19478.
12. Nair S, Branagan AR, Liu J, et al. Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma. New Engl J Med 2016;374:555–561.
13. Yamaguchi Y, Sasagasako N, Goto I, et al. The synthetic pathway for glucosylsphingosine in cultured fibroblasts. J Biochem 1994;116:704–710.
14. Dekker N, van Dussen L, Hollak CE, et al. Elevated plasma glucosylsphingosine in Gaucher disease: Relation to phenotype, storage cell markers, and therapeutic response. Blood 2011;118:e118–e127.
15. Ferraz MJ, Marques AR, Appelman MD, et al. Lysosomal glycosphingolipid catabolism by acid ceramidase: Formation of glycosphingoid bases during deficiency of glycosidases. FEBS Lett 2016;590:716–725.
16. Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004;41:15–22.
17. Hollak CE, van Weely S, van Oers MH, et al. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 1994;93:1288–1292.
18. Boot RG, Renkema GH, Verhoek M, et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem 1998;273:25680–25685.
19. Boot RG, Verhoek M, de Fost M, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: A novel surrogate marker for assessing therapeutic intervention. Blood 2004;103:33–39.
20. Deegan PB, Moran MT, McFarlane I, et al. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis 2005;35:259–267.
21. Nilsson O, Svennerholm L. Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J Neurochem 1982;39:709–718.
22. Orvisky E, Park JK, LaMarca ME, et al. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: Correlation with phenotype and genotype. Mol Genet Metab 2002;76:262–270.
23. Raghavan SS, Mumford RA, Kanfer JN. Deficiency of glucosylsphingosine: Beta-glucosidase in Gaucher disease. Biochem Biophys Res Commun 1973;54:256–263.
24. Rolfs A, Giese AK, Grittner U, et al. Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS One 2013;8:e79732.
25. Schueler UH, Kolter T, Kaneski CR, et al. Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: A model system for assessing neuronal damage in Gaucher disease type 2 and 3. Neurobiol Dis 2003;14:595–601.
26. Taddei TH, Dziura J, Chen S, et al. High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. J Inherit Metab Dis 2010;33:291–300.
27. Hermann G, Pastores GM, Abdelwahab IF, et al. Gaucher disease: Assessment of skeletal involvement and therapeutic responses to enzyme replacement. Skeletal Radiol 1997;26:687–696.
28. Maas M, van Kuijk C, Stoker J, et al. Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging–initial experience. Radiology 2003;229:554–561.
29. Weinreb NJ, Finegold DN, Feingold E, et al. Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3). Orphanet J Rare Dis 2015;10:64.
30. Schoonhoven A, Rudensky B, Elstein D, et al. Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta; Int J Clin Chem 2007;381:136–139.
31. Seeger JD, Williams PL, Walker AM. An application of propensity score matching using claims data. Pharmacoepidemiol Drug Saf 2005;14:465–476.
32. Haukoos JS, Lewis RJ. The Propensity Score. JAMA 2015;314:1637–1638.
33. Aerts JM, Hollak CE, van Breemen M, et al. Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases. Acta Paediatr Suppl 2005;94:43–46. discussion 37-48.
34. Grace ME, Balwani M, Nazarenko I, et al. Type 1 Gaucher disease: Null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum Mutat 2007;28:866–873.
35. Smid BE, Ferraz MJ, Verhoek M, et al. Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients. Orphanet J Rare Dis 2016;11:28.
36. Ferraz MJ, Kallemeijn WW, Mirzaian M, et al. Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses. Biochimica Et Biophys Acta 2014;1841:811–825.
37. Shinoda H, Kobayashi T, Katayama M, et al. Accumulation of galactosylsphingosine (psychosine) in the twitcher mouse: Determination by HPLC. J Neurochem 1987;49:92–99.
38. Hannun YA, Bell RM. Lysosphingolipids inhibit protein kinase C: Implications for the sphingolipidoses. Science (New York, NY) 1987;235:670–674.
39. Sohal PS, Cornell RB. Sphingosine inhibits the activity of rat liver CTP: Phosphocholine cytidylyltransferase. J Biol Chem 1990;265:11746–11750.
40. Shayman JA, Deshmukh GD, Mahdiyoun S, et al. Modulation of renal epithelial cell growth by glucosylceramide. Association with protein kinase C, sphingosine, and diacylglycerol. J Biol Chem 1991;266:22968–22974.
41. Ballabio A, Gieselmann V. Lysosomal disorders: From storage to cellular damage. Biochim Et Biophys Acta 2009;1793:684–696.
42. Sueyoshi N, Maehara T, Ito M. Apoptosis of Neuro2a cells induced by lysosphingolipids with naturally occurring stereochemical configurations. J Lipid Res 2001;42:1197–1202.