Biochemical and molecular chitotriosidase profiles in patients with gaucher disease type 1 in minas gerais, Brazil: New mutation in CHIT1 gene

JIMD Reports

Volumn 9, Issue , 2013, Pages 85-91

  Adelino, Talita E R ^a   Martins, Gustavo G ^a   Gomes, Aretta A A ^a   Torres, Adriana A ^a   Silva, Daniel A S ^a   Xavier, Vinícius D O ^a   Guimarães, João Paulo O ^a   Araújo, Sérgio S S ^a   Fernandes, Rachel A F ^a   Oliveira, Maria Christina L A ^a   Godard, Ana Lúcia B ^a   Valadares, Eugênia R ^a  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84906263637     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_184     Document Type: Chapter

References (41)

1. Aguilera B, Ghauharali-van der Vlugt K, Helmond MT et al (2003) Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase. J Biol Chem 278:40911–40916
2. Artieda M, Cenarro A, Gañán A et al (2003) Serum chitotriosidase activity is increases in subjects with atherosclerosis disease. Arterioscler Thromb Vasc Biol 23:1645–1652
3. Ballou LR, Laulederkind SJ, Rosloniec EF, Raghow R (1996) Ceramide signaling and the immune response. Biochim Biophys Acta 1301:273–287
4. Barone R, Di Gregorio F, Romeo MA, Schilirò G, Pavone L (1999) Plasma chitotriosidase activity in patients with b-thalassemia. Blood Cells Mol Dis 25:1–8
5. Barone R, Simporé J, Malaguarnera L, Pignatelli S, Musumeci S (2003) Plasma chitotriosidase activity in acute Plasmodium falciparum malaria. Clin Chim Acta 331:79–85
6. Beutler E, Grabowski GA (1995) Gaucher Disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2641–2670
7. Beutler E, Kuhl W (1970) The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes. J Lab Clin Med 76:747–755
8. Beutler E, Kuhl W, Trinidad F, Teplitz R, Nadler H (1971) Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease. Am J Hum Genet 23:62–66
9. Boot RG, Renkema GH, Verhoek M et al (1998) The human chitotriosidase gene: nature of inherited enzyme deficiency. J Biol Chem 273:25680–25685
10. Boot RG, van Aqterberg TAE, van Aken BE et al (1999) Strong induction of members of the chitinase family of proteins in atherosclerosis chitotriosidase and human cartilage gp-39 expressed in lesion macrophages. Arterioscler Thromb Vasc Biol 19:687–694
11. Boot RG, Hollak CEM, Verhoek M, Alberts C, Jonkers RE, Aerts JM (2010) Plasma chitotriosidase and CCL18 as surrogate markers for granulomatous macrophages in sarcoidosis. Clin Chim Acta 411:31–36
12. Brady RO, Kanfer J, Shapiro D (1965) The metabolism of glucocerebrosides. I. Purification and properties of a glucocere-broside-cleaving enzyme from spleen tissue. J Biol Chem 240:39–43
13. Brinkman J, Wijburg FA, Hollak CEM et al (2005) Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. J Inherit Metab Dis 28:13–20
14. Bussink AP, Verhoek M, Vreede J et al (2009) Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates. FEBS J 276:5678–5688
15. Canudas J, Cenarro A, Civeira F et al (2001) Chitotriosidase genotype and serum activity in subjects with combined hyperlipidemia: effect of the lipid-lowering agents, atorvastatin and bezafibrate. Metabolism 50:447–450
16. Choi EH, Zimmerman PA, Foster CB et al (2001) Genetic polymorphisms in molecules of innate immunity and susceptibility to infection with Wuchereria bancrofti in South India. Genes Immun 2:248–253
17. Comabella M, Domínguez C, Rio J et al (2009) Plasma chitotriosidase activity in multiple sclerosis. Clin Immunol 131:216–222
18. Cox T, Lachmann R, Hollak CEM et al (2000) Novel oral treatment of Gaucher’s disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355:1481–1485
19. Di Luca M, Romi R, Severini F et al (2007) High levels of human chitotriosidase hinder the formation of peritrophic membrane in anopheline vectors. Parasitol Res 100:1033–1039
20. Di Rosa M, Musumeci M, Scuto A, Musumeci S, Malaguarnera L (2005) Effect of interferon-g, interleukin-10, lipopolysaccharide and tumor necrosis factor-a on chitotriosidase synthesis in human macrophages. Clin Chem Lab Med 43:499–502
21. Froissart R (2006) Biomarqueurs actuels et futurs de la maladie de Gaucher. Rev Med Interne 27:S22–S25
22. Gordon-Thomson C, Kumari A, Tomkins L et al (2009) Chitotriosidase and gene therapy for fungal infections. Cell Mol Life Sci 66:1116–1125
23. Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ (2007) Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum Mutat 28:866–873
24. Hollak CEM, van Weely S, van Oers MHJ, Aerts JMFG (1994) Marked elevation of plasma chitotriosidase activity: a novel hallmark of Gaucher disease. J Clin Invest 93:1288–1292
25. Hollak CEM, Maas M, Aerts JM (2001) Clinically relevant therapeutic endpoints in type I Gaucher disease. J Inherit Metab Dis 24 (Suppl):97–105
26. Iyer A, van Eijk M, Silva E et al (2009) Increased chitotriosidase activity in serum of leprosy patients: association with bacillary leprosy. Clin Immunol 131:501–509
27. Labadaridis J, Dimitriou E, Costalos C et al (1998) Serial chitotriosidase activity estimations in neonatal systemic candidiasis. Acta Paediatr 87:605
28. Lee P, Waalen J, Crain K, Smargon A, Beutler E (2007) Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity. Blood Cells Mol Dis 39:353–360
29. Malaguarnera L, Simporè J, Prodi DA et al (2003) A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions. Genes Immun 4:570–574
30. Malaguarnera L, Musumeci M, Di Rosa M, Scuto A, Musumeci S (2005) Interferon-gamma, tumor necrosis factor-alpha, and lipopolysaccharide promote chitotriosidase gene expression in human macrophages. J Clin Lab Anal 19:128–132
31. Martins AM, Valadares ER, Porta G (2009) Recommendations on diagnosis, treatment, and monitoring for Gaucher Disease. J Pediatr 155:S10–18
32. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
33. Mistry PK, Abrahamov A (1997) A practical approach to diagnosis and management of Gaucher's disease. BailIieres Clin Haematol 10:817–838
34. Ries M, Schaefer E, Luhrs T et al (2006) Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C. J Inherit Metab Dis 29:647–652
35. Schoonhoven A, Rudensky B, Elstein D et al (2007) Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta 381:136–139
36. Sobreira E, Pires RF, Cizmarik M, Grabowski GA (2007) Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest-of-the-world. Mol Genet Metab 90:81–86
37. Souza MV, Krug BC, Picon PD, Schwartz IV (2010) Medicamentos de alto custo para doenças raras no Brasil: o exemplo das doenças lisossômicas. Cien Saude Colet 15:3443–3454
38. van Eijk M, van Roomen CPAA, Renkema GH (2005) Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity. Int Immunol 17:1505–1512
39. Vellodi A, Foo Y, Cole TJ (2005) Evaluation of three biochemical markers in the monitoring of Gaucher disease. J Inherit Metab Dis 28:585–92
40. Wajner A, Michelin K, Burin MG et al (2004) Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases. Clin Biochem 37:893–897
41. Wajner A, Michelin K, Burin MG et al (2007) Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease. Clin Biochem 40:365–369