2012, Number 1
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Rev Cub Gen 2012; 6 (1)
Co-morbidities, biochemical and genetic aspects in Gaucher’s disease: molecular diagnosis in Cuba
Acanda RAM
Language: Spanish
References: 87
Page: 8-19
PDF size: 473.61 Kb.
ABSTRACT
Gaucher’s disease is the most common sphingolipidoses, originated by a glucocerebroside deficiency, a lysosomal enzyme that catalyzes glucosylceramide hydrolysis into glucose and ceramide. More than 250 mutations have been described to date, expanding along the gene codifying this enzyme. Clinical manifestations are characterized by being wide-spectrum multisystemic ones, occasionally not correlating well with the specific genotype. This paper presents an update on Gaucher’s disease and its molecular diagnosis in Cuba.
REFERENCES
1-Gaucher PCE. On primary epithelioma of the spleen: idiopathic hypertrophy of the spleen without leukemia (Thesis, Doctor of Medicine). Paris: Octave Doin; 1882.
2- Zhao H, Grabowski GA. Gaucher disease: Perspectives on a prototype lysosomal disease. Cell Mol Life Sci. 2002;59(4):694-707.
3- Niederau C, Birkhan A, Ehlen C, Haussinger D. Facts and fiction of modern diagnosis of type 1 Gaucher disease: the German experience in 1996. Gauch Clin Perspec. 1998;4(2):1-15.
4- Tsuboi K. Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases. Int J Hematol. 2001;73(3):356-62.
5- Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet. 1991; 49(4):885-9.
6-Beutler E, Grabowski GA. Gaucher disease, in: Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), Met. Mol. Bases Inherit. Dis., Vol. 3. New York: McGraw-Hill; 2001. pp 3635-3668.
7-Pastores GM, Hermann G, Norton K, Desnick RJ. Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy. Pediatr Radiol. 1995;25(6):486-7.
8- Santoro D, Rosenbloom BE, Cohen AH. Gaucher disease with nephrotic syndrome response to enzyme replacement therapy. Am J Kidney Dis. 2002;40(1):E4.
9- Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Human Mutat. 2000;15(2):181-8.
10- Dahl N, Lagerstrom M, Erikson A, Petterson 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(2):275-8.
11- Harris CM, Taylor DS, Vellodi A. Ocular motor abnormalities in Gaucher disease. Neuropediatrics. 1999;30(6):289-93.
12- Dvir H, Harel M, McCarthy AA, Toker L, Silman I, Futerman AH, et al. X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease. EMBO Rep. 2003;4(7): 704-9
13- Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(5): 4–14.
14- Harzer K, Paton BC, Poulos A, Kustermann-Kuhn B, Roggendorf W, Grisar T, et al. Sphingolipid activator protein defficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. Eur J Pediatr. 1989;149(1):31-9.
15- Schnabel D, Schroder M, Sandhoff K. Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. FEBS Lett. 1991;284 (1):57-9.
16- Christomanou H, Chabás A, Pámpols T, Guardiola A. Activator protein deficient Gaucher’s disease. A second patient with the newly identified lipid storage disorder. Klin Wochenschr. 1989;67(19):999-1003.
17- Barneveld RA, Keijzer W, Tegelaers FP, Ginns EI, Geurts van Kessel A, Brady RO, et al. Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet. 1983;64(3):227-31.
18- Ginns EI, Choudary PV, Tsuji S, Martin B, Stubblefield B, Sawyer J, et al. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: Implications for Gaucher disease. Proc Natl Acad Sci USA. 1985;82(20):7101-5.
19- Sorge J, Gelbart T, West C, Westwood B, Beutler E. Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene. Proc Natl Acad Sci USA. 1985;82(16): 5442-5.
20- Sorge J, Kuhl W, West C, Beutler E. Gaucher Disease: Retrovirus-mediated correction of the enzymatic defect in cultured cells. Cold Spring Harb Symp Quant Biol. 1986;51(2):1041-6.
21- Tsuji S, Choudary PV, Martin BM, Winfield S, Barranger A,Ginns EI. Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. J Biol Chem. 1986;261(1):50-3.
22- Giraldo P, Giralt M, Pérez-Calvo JI, Pocoví M. Enfermedad de Gaucher. Epidemiología, clínica, diagnóstico, tratamiento. España: Editorial RS Zaragoza; 1999.
23-Mistry PK, Cox TM. The glucocerebrosidase locus in Gaucher’s disease: molecular analysis of a lisosomal enzyme. J Med Genet. 1993;30(8):889-94.
24- Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Genome Res. 1997;7(10):1020-6.
25- Armstrong LC, Komiya T, Bergman BE, Mihara K, Bornstein P. Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion. J Biol Chem. 1997;272(10):6510-8.
26- Adolph KW, Long GL, Winfield S, Ginns EI, Bornstein P. Structure and organization of the human thrombospondin 3 gene (THBS3). Genomics. 1995;27(2):329-36.
27- Martinez-Arias R, Comas D, Mateu E, Bertranpetit J. Glucocerebrosidase pseudogene variation and Gaucher disease: recognizing pseudogene tracts in GBA alleles. Hum Mutat. 2001; 17(3):191-8.
28- Sorge J, West C, Westwood B, Beutler E. Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA. Proc Natl Acad Sci USA. 1985;82(21):7289-93.
29- Beutler E, Gelbart T. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis. 1998;24(1):2-8.
30- Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis. 2005;35(3):355-64.
31- Tsuji S, Martin BM, Barranger JA, Stubblefield BR, LaMarca ME, Ginns EI. Genetic heterogeneity in Type I Gaucher’s disease: multiple genotypes in Ashkenazi and non- Ashkenazi individuals. Proc Natl Acad Sci USA. 1988;85(7):2349-52.
32- Beutler E, Gelbart T, Kuhl W, Zimran A, West C. Mutations in Jewish patients with Gaucher disease. Blood. 1992;79(7):1662-6.
33- Horowitz M, Tzuri G, Eyal N, Berebi A, Kolodny EH, Brady RO, et al. Prevalence of nine mutations among Jewish and non-Jewish Gaucher patients. Am J Hum Genet. 1993;53(4):921-30.
34- Horowitz M, Zimran A. Mutations causing Gaucher Disease. Hum Mutat. 1994;3(1):1-11.
35- Giraldo P, Alfonso P, Aznarez S, Giralt M, Pocovi M. Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. J Hum Genet. 2007; 52(5):391–6.
36- Díaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabás A, et al. Gaucher Disease: The N370S Mutation in Ashkenazi Jewish and Spanish Patients has a Common Origin and Arose Several Thousand Years Ago. Am J Hum Genet. 1999;64(4):1233-8.
37- Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor A, Barranger JA, et al. A mutation in the human glucocerehrosidase gene in neuronopathic Gaucher’s disease. N Engl J Med. 1987;316(10):570-5.
38- He G-S, Grabowski GA. Gaucher disease: A G+1 → A+1 IVS2 splice donor mutation causing exon skipping in the acid B-glucosidase mRNA. Am J Hum Genet. 1992;51(4):810-20.
39- Beutler E, Gelbart T, West C. Identification of six new Gaucher disease mutations. Genomics. 1993;15(1):203-5.
40- Tayebi N, Stern H, Dymarskaia I, Herman J, and Sidransky E. 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles. Am J Med Genet. 1996;66(3):316-9
41- Koprivicia V, Stone DL, Park JK, Callahan M, Frish A, Cohen IJ, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet. 2000;66(6):1777-86.
42-Amaral O, Pinto E, Fortuna M, Lacerda L, Sa Miranda MC. Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. Hum Mutat. 1996;8(3):280-1.
43- Rozenberg R, Araújo FT, Fox DC, Aranda P, Nonino A, Micheletti C, et al. High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients. Braz J Med Biol Res. 2006;39(9):1171-9.
44- Germain DP, Puech JP, Caillaud C, Kahn A, Poenaru L. Exhaustive screening of the acid b-glucosidase gene by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype:phenotype correlation’s in Gaucher disease. Am J Hum Genet.1998;63(2):415-27.
45- Amaral A, Marcao A, Sa Miranda MC, Desnick RJ, Grace ME. Gaucher disease: expression and characterization of mild and severe acid â-glucosidase mutations in Portuguese type 1 patients. Eur J Hum Genet. 2000;8(2): 95-102.
46- Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. A glucocerebrosidase fusion gene in Gaucher’s disease. Implications for the molecular anatomy, pathogenesis and diagnosis of this disorder. J Clin Invest. 1990;85(1):219-22.
47- Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, et al. Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNci I mutation. Am J Med Genet. 1998;80(4):343-51.
48- Zimran A, Sorge J , Gross E, Kubitz M, West C, Beutler E. Prediction of severity of Gaucher’s disease by identification of mutations at DNA level. Lancet. 1989;2(8659):349-52.
49- Park JK, Orvisky E, Tayebi N, Kaneski C, LaMarca ME, Stubblefield BK, et al. Myoclonic epilepsy in Gaucher disease: genotype–phenotype insights from a rare patient subgroup. Pediatr Res. 2003;53(3):387-95.
50- Sidransky E, Tsuji S, Stabblefield BK, Currie J, Fitz-Gibbon E, Ginns EI. Gaucher patients with oculomotor abnormalities do not have a unique genotype. Clin Genet. 1992;41(1):1-5.
51- Capablo J L, Saenz de Cabezón A, Fraile J, Alfonso P, Pocovi M, Giraldo P. Neurological evaluation of patients with Gaucher disease diagnosed as type 1. J Neurol Neurosurg Psychiatry. 2008;79(2):219-22.
52- Dahl N, Lagerstrom M, Erikson A, Petersson 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(2):275 -8.
53- Masuno M, Tomatsu S, Sukegawa K, Tadao O. Non-existence of a tight association between a 4441eucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form. Hum Genet. 1990;84(2):203-6.
54- Bembi B, Zambito S, Sidransky E, Ciana G, Carrozzi M, Zorzon M, et al. Gaucher’s disease with Parkinson’s disease: clinical and pathological aspects. Neurology. 2003;61(1):99-101.
55- Mignot C, Doummar D, Maire I, de Villemeur TB. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev. 2006;28(1):39-48.
56- Reinier O, Horowitz M. Differential expression of the human glucocerebrosidase-coding gene. Gene. 1988;73(2):469-78.
57- Alatrescu G, Phillips M, Foldes AJ, Elstein D, Zimran A, Mates M. The interleukin-6 promoter polymorphism in Gaucher disease: a new modifier gene? QJM. 2003;96(8):575-8.
58- Sidransky E. Gaucher disease: complexity in a ‘‘simple’’ disorder. Mol Genet Metab. 2004; 83(1-2):6–15.
59- Stone DL, Carey WF, Christodoulou J, Sillence D, Nelson P, Callahan M, et al. Type 2 Gaucher disease: the collodion baby phenotype revisited. Arch Dis Child Fetal Neonatal Ed. 2000;82(2):F163–6.
60- Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hadas-Halpern I, et al. Gaucher`s disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet. 1995;346(8981):1000–3.
61- Uyama E, Takahashi K, Owada M, Okamura R, Naito M, Tsuji S, et al. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells. Acta Neurol Scand. 1992;86(4):407–20.
62- Goker-Alpan O, Tayebi N, Kishani P, Rosenbaum H, Sidransky E. Renal involvement in Gaucher disease: different mechanisms with different outcomes. Pediatr Res. 2003;53:167S.
63- Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D, et al. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab. 2001;73(4):313-21.
64- Pratt PW, Kochwa S, Estren S. Immunoglobulin abnormalities in Gaucher’s disease. Report of 16 cases. Blood. 1968;31(5):633- 40.
65- Rosenbloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood. 2005;105(12):4569-72.
66- Fost M, Dahl SV, Weverling GJ, Brill N, Brett S, Haussinger D, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis. 2006;36(1):53-8.
67-Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, et al. Life expectancy in Gaucher disease type 1. Am J Hematol. 2008;83(12):896-900.
68- Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, et al. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk. Am J Hematol. 2009; 84(4):208-14.
69- Barak V, Acker M, Nisman B, Kalickman I, Abrahamov A, Zimran A, et al. Cytokines in Gaucher’s disease. Eur Cytokine Netw. 1999;10(2):205-10.
70- Cheung WC, Van Ness B. Distinct interleukin-6 signal transduction leads to growth arrest and death in B-cells or growth promotion and cell survival in myeloma cells. Leukemia. 2002; 16(6):1182-8.
71- Pollack S, Kedem E, Brenner B. Serum ferritin interferes with in vitro immune functions of patients with Gaucher disease. Isr J Med Sci. 1987;23:1273-6.
72- Mizukami H, Mi Y, Wada R, Kono M, Yamashita T, Liu Y. Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. J. Clin Invest. 2002;109(9):1215-21.
73- Van Bogaert LF. Un cas de maladie de Gaucher de la´ dulte avec syndrome de Raynaud, pigmentation, et rigidite du type extrapyrajidal aux membres inferieurs. Ann Med. 1939; 45:57-70.
74- McKeran RO, Bradbury P, Taylor D, Stern G. Neurological involvement in type 1 (adult) Gaucher’s disease. J Neurol Neurosurg Psychiatry. 1985;48(2):172-5.
75- Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E, et al. Occurrence of Parkinson’s syndrome in type I Gaucher disease. QJM. 1996;89(9):691-4.
76- Machaczka M, Rucinska M, Skotnicki AB, Jurczak W. Parkinson’s syndrome preceding clinical manifestation of Gaucher’s disease. Am J Hematol. 1999;61(3):216-7.
77- Spitz M, Rozenberg R, Silveira PA, Barbosa ER. Parkinsonism in type 1 Gaucher`s disease. J Neurol Neurosurg Psychiatry. 2006;77(5):709-10.
78- Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, Mclnerney-Leo A, Sidranski E. Parkinsonism among Gaucher disease carriers. J Med Genet. 2004;41(12):937-40.
79- Giraldo P, Capablo JL, Alfonso P, Latre P, Garcia B, Pocoví M. Manifestaciones neurológicas en pacientes con enfermedad de Gaucher y sus familiares. Med Clin (Barc). 2008;131(5):175-9.
80- Halperin A, Elstein D, Zimran A. Increased incidence of Parkinson disease among relatives of patients with gaucher disease. Blood Cells Mol Dis. 2006;36(3):426-8.
81- Kono S, Shirakawa K, Ouchi Y, Sakamoto M, Ida H, Sugiara T, et al. Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier. J Neurol Sci. 2007; 252(2):181-4.
82- Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab. 2004;81(1):70-3.
83- Toft M, Pielsticker L, Ross OA, Aasly JO, Farrer MJ. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology. 2006;66(3):415-7.
84- Spitz M, Rozenberg R, Pereira LV, Barbosa ER. Association between Parkinson’s disease and glucocerebrosidase mutations in Brazil. Parkinsonism Relat Disord. 2008;14(1):58-62.
85- Eblan MJ, Nguyen J, Ziegler SG, Lwin A, Hanson M, Gallardo M, Weiser R, De Lucca M, Singleton A. Glucocerebrosidase mutations are also found in subjects with early-onset Parkinsonism from Venezuela. Mov Disord. 2006;21(2):282-8.
86- Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, et al. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology. 2008;70(24):2277-83.
87- Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, Katsarou Z, Hardy J, Fidani L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci Lett. 2009;452(2):87-9.