Gaucher's disease: A paradigm for interventional genetics

Clinical Genetics

Volumn 65, Issue 2, 2004, Pages 77-86

  Germain, Dominique P ^a  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

Enzyme replacement therapy; Gaucher's disease; Interventional genetics; Lysosome; Substrate reduction therapy

Indexed keywords

2 DECANOYLAMINO 3 MORPHOLINO 1 PHENYL 1 PROPANOL; ALGLUCERASE; ANTICONVULSIVE AGENT; BETA GLUCOSIDASE; CERAMIDE GLUCOSYLTRANSFERASE; CERAMIDE GLUCOSYLTRANSFERASE INHIBITOR; CYCLOPHOSPHAMIDE; GLUCOSYLCERAMIDASE; GLUCOSYLTRANSFERASE; GLYCOSPHINGOLIPID; IMIGLUCERASE; IMMUNOGLOBULIN G; IMMUNOGLOBULIN G ANTIBODY; MIGLUSTAT;

ANEMIA; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW DISEASE; BONE MARROW TRANSPLANTATION; DIARRHEA; DISEASE CLASSIFICATION; DOSE RESPONSE; DRUG EFFICACY; DRUG SAFETY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; ETHNOLOGY; FEVER; GAUCHER DISEASE; GENE LOCUS; GENE MUTATION; GENE THERAPY; GENETIC COUNSELING; GENETIC ENHANCEMENT; GENOTYPE PHENOTYPE CORRELATION; GEOGRAPHY; HEPATOSPLENOMEGALY; HUMAN; HYPERSENSITIVITY REACTION; INBORN ERROR OF METABOLISM; LETHARGY; LIPID METABOLISM; LIVER DISEASE; LYSOSOME STORAGE DISEASE; MOLECULAR GENETICS; MYOCLONUS EPILEPSY; NAUSEA; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; SHORT SURVEY; SPLEEN DISEASE; SPLENECTOMY; THROMBOCYTOPENIA;

GAUCHER DISEASE; GENE THERAPY; GENOTYPE; HUMANS; PHENOTYPE;

EID: 1242318577     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.00217.x     Document Type: Short Survey

References (65)

1. Brady RO, Kanfer JN, Shapiro D. Metabolism of glucococerebrosidase II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Common. 1965: 18: 221-225.
2. Beutler E, Demina A, Laubscher K, Garver P, Gelbart T, Balicki D, et al. The clinical course of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells Mol Dis 1995: 21: 86-108.
3. Grabowski GA, Saal HM, Wenstrup RJ, Barton N. Gaucher disease: a prototype for molecular medicine. Crit Rev Oncol Hematol 1996: 23: 25-55.
4. Beutler E, Nguyen NJ, Henneberger MW, Smolec JM, McPherson RA, West C, et al. Gaucher disease: Gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet. 1993: 52: 85-88.
5. Berrebi A, Wishnitzer R, Von der Walde U. Gaucher's disease: Unexpected diagnosis in three patients over seventy years old. Nouv Rev Fr Hematol 1984: 26: 201-203.
6. Allen MJ, Myer III, Khokher AM, Rushton N, Cox TM. Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM 1997: 90: 19-25.
7. Neudorfer O, Hadas-Halpern I, Elstein D, Abrahamov A, Zimran A. Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 Gaucher patients. Biochem J 1997: 55: 28-34.
8. Lachmann RH, Wight DG, Lomas DJ et al. Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features. QJM 2000: 93: 237-244.
9. Maas M, Hollak CE, Akkerman EM, Aerts JM, Stoker J, Den Heeten GJ. Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. Am J Roentgenol 2002: 179: 961-965.
10. Kim JH, Park CH, Pai MS, Hahn MH, Kim HJ. Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA. Clin Nucl Med 1999: 24: 164-166.
11. Dawson A, Elias DJ, Rubenson D et al. Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome. Ann Intern Med 1996: 125: 901-904.
12. Mistry PK, Sirrs S, Chan A et al. Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab 2002: 77: 91-98.
13. Maaswinkel-Mooij P, Hollak C, van Eysden-Plaisier M, Prins M, Aerts H, Poll R. The natural course of Gaucher disease in The Netherlands: implications for monitoring of disease manifestations. J Inherit Metab Dis 2000: 23: 77-82.
14. Sidransky E, Sherer DM, Ginns EI. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res 1992: 32: 494-498.
15. Tybulewicz VL, Tremblay ML, LaMarca ME et al. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 1992: 357: 407-410.
16. Brady RO, Barton NW, Grabowski GA. The role of neurogenetics in Gaucher disease. Arch Neurol 1993: 50: 1212-1224.
17. Erikson A. Gaucher disease: Norrbottnian type 3. Neuropediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand 1986: 326: 1-42.
18. Dahl N, Lagerstrom M, Erikson A, Pettersson U. Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am J Hum Genet 1990: 47: 275-278.
19. Abrahamov A, Elstein D, Gross-Tsur V et al. A new Gaucher disease variant characterized by progressive calcification of heart valves and an unique genotype. Lancet 1995: 346: 1000-1003.
20. George R, McMahon J, Lytle B, Clark B, Lichtin A. Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. Clin Genet 2001: 59: 360-363.
21. Beutler E, Grabowski GA. Gaucher disease. In: The Metabolic and Molecular Bases of Inherited Diseases. (Scriver CR, Beaudet A, Sly WS and Valle D, eds). New York: Mcgraw-Hill, 1995: 2641-2670.
22. Hollak CEM, van Weely S, van Oers MHJ, Aerts JMFG. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 1994: 93: 1288-1292.
23. Poenaru L, Manicom J, Germain DP. Chitotriosidase as a marker for diagnosis and treatment follow-up in Gaucher disease: a survey of 50 patients. Am J Hum Genet 1996: 59: A205.
24. 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 (in press).
25. Barneveld RA, Keijzer W, Tegelaers FPW et al. Assignment of the gene coding for human β-glucocerebrosidase to the region q21-q23 of chromosome 1 using monoclonal antibodies. Hum Genet 1983: 64: 227-231.
26. Sorge J, West C, Westwood B, Beutler E. Molecular cloning and nucleotide sequence of the human glucocerebrosidase gene. Proc Natl Acad Sci USA 1985: 82: 7289-7293.
27. Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 1989: 4: 87-96.
28. Beutler E, West C, Gelbart T. Polymorphisms in the human glucocerebrosidase gene. Genomics 1992: 12: 795-800.
29. Germain DP, Puech JP, Caillaud C, Kahn A, Poenaru L. Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease. Am J Hum Genet 1998: 63: 415-427.
30. Zimran A, Elstein D, Abrahamov A, Kuhl W, Brown KH, Beutler E. Prenatal molecular diagnosis of Gaucher disease. Prenat Diagn 1995: 15: 1185-1188.
31. Beutler E, Gelbart T. Glucocerebrosidase (Gaucher disease). Hum Mutat 1996: 8: 207-213.
32. Grabowski GA, Horowitz M. Gaucher's disease: molecular, genetic and enzymological aspects. Baillieres Clin Haematol 1997: 10: 635-656.
33. Beutler E, Gelbart T. Gaucher disease mutations in non-Jewish patients. Br J Haematol 1993: 85: 401-405.
34. Walley AJ, Barth ML, Ellis I, Fensom AH, Harris A. Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations. J Med Genet 1993: 30: 280-283.
35. Amaral O, Fortuna AM, Lacerda I, Pinto R, Sa Miranda MC. Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level. J Med Genet 1994: 31: 401-404.
36. Cormand B, Vilageliu L, Burguera JM et al. Gaucher disease in Spanish patients: analysis of eight mutations. Hum Mutat 1995: 5: 303-309.
37. Le Coutre P, Demina A, Beutler E, Beck M, Petrides PE. Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients form Germany. Hum Genet 1997: 99: 816-821.
38. Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, et al. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value. Hum Mutat 1997: 10: 348-358.
39. Zimran A, Horowitz M. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease. Am J Med Genet 1994: 1: 74-78.
40. NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease. Current issues in diagnosis and treatment. JAMA 1996: 275: 548-553.
41. Cox TM, Schofield JP. Gaucher's disease clinical features and natural history. Bailliere's Clin Haematol 1997; 10: 659-687.
42. Pasmanik-Chor M, Madar-Shapiro L, Stein EO, Aerts H, Gatt S, Horowitz M. Expression of mutated glucocerebrosidase alleles in human cells. Hum Mol Genet 1997; 6: 887-95.
43. Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, et al. Replacement therapy for inherited enzyme deficiency macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991; 324: 1464-1470.
44. Barton NW, Brady RO, Dambrosia JM. Treatment of Gaucher's disease. New Engl J Med 1993; 328: 1564-1565.
45. Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 1995; 1: 33-39.
46. Charrow J, Esplin JA, Gribble TJ, Kaplan P, Kolodny EH, Pastores GM, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 1998; 158: 1754-1760.
47. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher registry. Am J Med 2002; 113: 112-119.
48. Damiano AM, Pastores GM, Ware JE. The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res 1998; 7: 373-386.
49. Belmatoug N, Caubel I, Stimemann J, Billette de Villemeur T. Gaucher's disease. J Soc Biol 2002; 196: 141-149.
50. Beutler E. Enzyme replacement therapy for Gaucher's disease. Bailliere's Clin Haematol 1997; 10: 751-763.
51. Altarescu G, Schiffmann R, Parker CC, Moore DF, Kreps C, Brady RO, et al. Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. Blood Cells Mol Dis 2000; 26: 285-290.
52. Vellodi A, Bembi B, Billette de Villemeur T, Collin-Histed T, Erikson A, Mengel E, Rolfs A, Tylki-Szymanska A. Neuronopathic Gaucher Disease Task Force of the European Working Group on Gaucher Disease. Neuronopathic Gaucher disease task force of the European working group on Gaucher disuse. Management of neuronopathic Gaucher disease a European consensus. J Inher Metab Dis 2001; 24: 319-327.
53. Prows CA, Sanchez N, Daugherty C, Grabowski GA. Gaucher disease: Enzyme therapy in the acute neuronopathic variant. Am J Med Genet 1997; 71: 16-21.
54. Pastores GM, Barnett NL. Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1. Expert Opin Investig Drugs. 2003; 12: 273-281.
55. Rosenberg M, Kingma W, Fitzpatrick MA, Richards SM. Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. Blood 1999; 93:2081-2088.
56. Brady RO, Murray GJ, Oliver KL, Leitman SF, Sneller MC, Fleisher TA, et al. Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher Disease. Pediatrics 1997; 100 e11-e14.
57. Ponce E, Moskovitz J, Grabowski G. Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. Blood 1997; 90: 43-48.
58. Germain DP, Kaneski CR, Brady RO. Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase. Mutat Res 2001; 483: 89-94.
59. Cox TM, Lachmann R, Hollak CE, Aerts H, van Weely S, Hrebicek M, et al. Noval oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000; 355: 1481-1485.
60. Heitner R, Elstein D, Aerts J, van Weely S, Zimran A. Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis 2002; 28: 127-133.
61. Cox TM, Aerts JM, Andria G, Beck M, Belmatoug N, Bembi B, et al. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis 2003; 26: 513-526.
62. Sawkar AR, Cheng WC, Beutler E, Wong CH, Balch WE, Kelly JW. Chemical chaperons increase the cellular activity of N370S beta-glucosidase: a therapeutic option for Gaucher disease. Proc Natl Acad Sci USA 2002; 99: 15428-15433.
63. Barranger JA, Rice EO, Dunigan J, Sansieri C, Takiyama N, Beeler M, et al. Gaucher's disease: studies of gene transfer to haematopoietic cells. Bailliere's Clin Haematol 1997; 10: 765-778.
64. Kohn DB. Gene therapy for genetic haematological disorders and immunodeficiencies. J Intern Med 2001; 249: 379-390.
65. Barranger JM and Novelli EA. Gene therapy for lysosomal storage disorders. Expert Opin Biol Ther 2001; 1: 857-67.