Gaucher disease gene GBA functions in immune regulation

Proceedings of the National Academy of Sciences of the United States of America

Volumn 109, Issue 25, 2012, Pages 10018-10023

  Liu, Jun ^a   Halene, Stephanie ^b   Yang, Mei ^a   Iqbal, Jameel ^c   Yang, Ruhua ^a   Mehal, Wajahat Z ^a   Chuang, Wei Lien ^d   Jain, Dhanpat ^a   Yuen, Tony ^c   Sun, Li ^c   Zaidi, Mone ^c   Mistry, Pramod K ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE CANCER CENTER   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d SANOFI   (France)

Author keywords

Glucocerebroside; Glucosylsphingosine; Lysosomal storage disease

Indexed keywords

BETA GLUCOSIDASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANTIGEN PRESENTATION; ARTICLE; B LYMPHOCYTE; BONE MARROW; CELL MATURATION; CONTROLLED STUDY; DISEASE SEVERITY; GAUCHER DISEASE; GENE DELETION; GENE MUTATION; IMMUNOCOMPETENT CELL; IMMUNOREGULATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; THYMUS;

ANIMALS; ANTIGENS, CD; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; IMMUNOPHENOTYPING; MICE; MICE, KNOCKOUT;

EID: 84862544802     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1200941109     Document Type: Article

References (45)

1. Grabowski GA, Petsko GA, Kolodny EH (2010) Gaucher Disease. The Online Metabolic and Molecular Bases of Inherited Disease. Chapter 146, eds Valle D, et al. Available at www.ommbid.com.
2. Korkotian E, et al. (1999) Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons. J Biol Chem 274:21673-21678.
3. Mistry PK, et al. (2010) Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci USA 107:19473-19478.
4. Hüulková H, et al. (2010) Abnormal nonstoring capillary endothelium: A novel feature of Gaucher disease. Ultrastructural study of dermal capillaries. J Inherit Metab Dis 33: 69-78.
5. Elleder M (2006) Glucosylceramide transfer from lysosomes - the missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data. J Inherit Metab Dis 29:707-715.
6. Allen MJ, Myer BJ, Khokher AM, Rushton N, Cox TM (1997) Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: Increased release of interleukin-6 and interleukin-10. QJM 90:19-25.
7. Lacerda L, et al. (1999) T cell numbers relate to bone involvement in Gaucher disease. Blood Cells Mol Dis 25:130-138.
8. Balreira A, Lacerda L, Miranda CS, Arosa FA (2005) Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: Monocytes from Gaucher disease patients as a model. Br J Haematol 129:667-676.
9. Mizukami H, et al. (2002) Systemic inflammation in glucocerebrosidase- deficient mice with minimal glucosylceramide storage. J Clin Invest 109:1215-1221.
10. Maródi L, Káposzta R, Tóth J, László A (1995) Impaired microbicidal capacity of mononuclear phagocytes from patients with type I Gaucher disease: Partial correction by enzyme replacement therapy. Blood 86:4645-4649.
11. Finkelstein R, et al. (1992) Anaerobic osteomyelitis in patients with Gaucher's disease. Clin Infect Dis 15:771-773.
12. Barak V, et al. (1999) Cytokines in Gaucher's disease. Eur Cytokine Netw 10:205-210.
13. Lichtenstein M, Zimran A, Horowitz M (1997) Cytokine mRNA in Gaucher disease. Blood Cells Mol Dis 23:395-401.
14. Liel Y, Rudich A, Nagauker-Shriker O, Yermiyahu T, Levy R (1994) Monocyte dysfunction in patients with Gaucher disease: Evidence for interference of glucocerebroside with superoxide generation. Blood 83:2646-2653.
15. Rosenbloom BE, et al. (2005) Gaucher disease and cancer incidence: A study from the Gaucher Registry. Blood 105:4569-4572.
16. Taddei TH, et al. (2009) The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol 84:208-214.
17. de Fost M, et al. (2006) Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis 36:53-58.
18. Lee RE (1982) The pathology of Gaucher disease. Prog Clin Biol Res 95:177-217.
19. Enquist IB, et al. (2006) Effective cell and gene therapy in a murine model of Gaucher disease. Proc Natl Acad Sci USA 103:13819-13824.
20. Li W, et al. (2005) An alternate pathway for CD4 T cell development: Thymocyte-expressed MHC class II selects a distinct T cell population. Immunity 23:375-386.
21. Savino W, et al. (1985) Thymoma epithelial cells secrete thymic hormone but do not express class II antigens of the major histocompatibility complex. J Clin Invest 76: 1140-1146.
22. Inaba M, et al. (1991) Distinct mechanisms of neonatal tolerance induced by dendritic cells and thymic B cells. J Exp Med 173:549-559.
23. Gollob KJ, Palmer E (1991) Physiologic expression of two superantigens in the BDF1 mouse. J Immunol 147:2447-2454.
24. Fukuba Y, et al. (1994) Functional analysis of thymic B cells. Immunobiology 190:150-163.
25. Mazda O, Watanabe Y, Gyotoku J, Katsura Y (1991) Requirement of dendritic cells and B cells in the clonal deletion of Mls-reactive T cells in the thymus. J Exp Med 173:539-547.
26. Le Panse R, et al. (2008) Regulatory and pathogenic mechanisms in human autoimmune myasthenia gravis. Ann NY Acad Sci 1132:135-142.
27. Renno T, et al. (1998) Expression of B220 on activated T cell blasts precedes apoptosis. Eur J Immunol 28:540-547.
28. Oka S, Mori N, Matsuyama S, Takamori Y, Kubo K (2000) Presence of B220 within thymocytes and its expression on the cell surface during apoptosis. Immunology 100:417-423.
29. Ballas ZK, Rasmussen WL, Alber CA, Sandor M (1997) Ontogeny of thymic NK1.1+ cells. J Immunol 159:1174-1181.
30. Young DC, Moody DB (2006) T-cell recognition of glycolipids presented by CD1 proteins. Glycobiology 16:103R-112R.
31. Prigozy TI, et al. (2001) Glycolipid antigen processing for presentation by CD1d molecules. Science 291:664-667.
32. McKenzie GJ, et al. (1998) Impaired development of Th2 cells in IL-13-deficient mice. Immunity 9:423-432.
33. Aerts JM, et al. (2008) Biomarkers for lysosomal storage disorders: Identification and application as exemplified by chitotriosidase in Gaucher disease. Acta Paediatr Suppl 97:7-14.
34. Boven LA, et al. (2004) Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol 122:359-369.
35. Lachmann RH, et al. (2000) Massive hepatic fibrosis in Gaucher's disease: Clinicopathological and radiological features. QJM 93:237-244.
36. Lee CG, et al. (2011) Role of chitin and chitinase/chitinase-like proteins in inflammation, tissue remodeling, and injury. Annu Rev Physiol 73:479-501.
37. Schwarz BA, Bhandoola A (2006) Trafficking from the bone marrow to the thymus: A prerequisite for thymopoiesis. Immunol Rev 209:47-57.
38. Berger J, et al. (2010) Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitromodel of Gaucher disease. Br J Haematol 150:93-101.
39. Adachi Y, et al. (1998) An autopsy case of fetal Gaucher disease. Acta Paediatr Jpn 40:374-377.
40. Boot RG, et al. (2007) Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2. J Biol Chem 282:1305-1312.
41. Hannun YA, Obeid LM (2008) Principles of bioactive lipid signalling: Lessons from sphingolipids. Nat Rev Mol Cell Biol 9:139-150.
42. Pappu R, et al. (2007) Promotion of lymphocyte egress into blood and lymph by distinct sources of sphingosine-1-phosphate. Science 316:295-298.
43. Kanzaki S, et al. (2010) Thymic Alterations in GM2 gangliosidoses model mice. PLoS ONE 5:e12015.
44. Qu P, Du H, Wilkes DS, Yan C (2009) Critical roles of lysosomal acid lipase in T cell development and function. Am J Pathol 174:944-956.
45. Castaneda JA, Lim MJ, Cooper JD, Pearce DA (2008) Immune system irregularities in lysosomal storage disorders. Acta Neuropathol 115:159-174.