The enigma of the E326K mutation in acid β-glucocerebrosidase

Molecular Genetics and Metabolism

Volumn 104, Issue 1-2, 2011, Pages 35-38

  Horowitz, Mia ^a   Pasmanik Chor, Metsada ^a   Ron, Idit ^a,c   Kolodny, Edwin H ^b  

^a TEL AVIV UNIVERSITY   (Israel)

^b NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^c Proteologics Ltd   (Israel)

Author keywords

E326K mutation; Gaucher disease; Lysosomal beta glucocerebrosidase

Indexed keywords

COMPLEMENTARY DNA; GLUCOSYLCERAMIDASE;

AMINO ACID ANALYSIS; AMNESIA; BASE PAIRING; DISEASE ASSOCIATION; DYSARTHRIA; ENZYME ACTIVITY; ENZYME SUBSTRATE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HELA CELL; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; MUTATIONAL ANALYSIS; MYOCLONUS; NONHUMAN; PARKINSON DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN CONFORMATION; PSEUDOGENE; REVIEW; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TISSUE CULTURE;

AMINO ACID SUBSTITUTION; GLUCOSYLCERAMIDASE; HETEROZYGOTE; HUMANS; MUTATION; PARKINSON DISEASE; TISSUE CULTURE TECHNIQUES;

EID: 80052531666     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.07.002     Document Type: Review

References (40)

1. Beutler E. Gaucher disease. Adv. Genet. 1995, 32:17-49.
2. Grabowski G.A., Gatt S., Horowitz M. Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease. Crit. Rev. Biochem. Mol. Biol. 1990, 25:385-414.
3. Aharon-Peretz J., Badarny S., Rosenbaum H., Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation. Neurology 2005, 65:1460-1461.
4. Aharon-Peretz J., Rosenbaum H., Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 2004, 351:1972-1977.
5. Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol. Genet. Metab. 2004, 83:6-15.
6. Sidransky E. Gaucher disease and parkinsonism. Mol. Genet. Metab. 2005, 84:302-304.
7. Zimran A., Neudorfer O., Elstein D. The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 2005, 352:728-731. author reply 728-731.
8. Tsuji S., Martin B.M., Barranger J.A., Stubblefield B.K., LaMarca M.E., Ginns E.I. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc. Natl. Acad. Sci. U. S. A. 1988, 85:2349-2352.
9. Sidransky E., Ginns E.I. Gaucher's disease: the best laid schemes of mice and men Baillieres. Clin. Haematol 1997, 10:725-737.
10. Hruska K.S., LaMarca M.E., Scott C.R., Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat. 2008, 29:567-583.
11. 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.
12. Barneveld R.A., Keijzer W., Tegelaers F.P.W., Ginns E.I., Geurtz van Kessel A., Brady R.O., Barranger J.A., Tager J.M., Galjaard H., Westerveld A., Reuser A.J. Assignment of the gene coding for human ß-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum. Genet. 1983, 64:227-231.
13. Bornstein P., McKinney C.E., LaMarca M.E., Winfield S., Shingu T., Devarayalu S., Vos H.L., Ginns E.I. Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc. Natl. Acad. Sci. U. S. A. 1995, 92:4547-4551.
14. Winfield S.L., Tayebi N., Martin B.M., Ginns E.I., Sidransky E. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Genome Res. 1997, 7:1020-1026.
15. Eyal N., Firon N., Wilder S., Kolodny E.H., Horowitz M. Three unique base pair changes in a family with Gaucher disease. Hum. Genet. 1991, 87:328-332.
16. Grace M.E., Ashton-Prolla P., Pastores G.M., Soni A., Desnick R.J. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease. J. Clin. Invest. 1999, 103:817-823.
17. Zhao H., Keddache M., Bailey L., Arnold G., Grabowski G. Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships. Clin. Genet. 2003, 64:57-64.
18. Katoh K., Misawa K., Kuma K., Miyata T. MAFFT: a novel method for rapid multiple sequence alignment based on fast Fourier transform. Nucleic Acids Res 2002, 30:3059-3066.
19. Dvir H., Harel M., McCarthy A.A., Toker L., Silman I., Futerman A.H., Sussman J.L. X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease. EMBO Rep. 2003, 4:704-709.
20. Torralba M.A., Perez-Calvo J.I., Pastores G.M., Cenarro A., Giraldo P., Pocovi M. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients. Blood Cells Mol. Dis. 2001, 27:489-495.
21. Montfort M., Chabas A., Vilageliu L., Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms. Hum. Mutat. 2004, 23:567-575.
22. Ron I., Dagan A., Gatt S., Pasmanik-Chor M., Horowitz M. Use of fluorescent substrates for characterization of Gaucher disease mutations. Blood Cells Mol. Dis. 2005, 35:57-65.
23. M. Pasmanik-Chor, L. Madar-Shapiro, E.O. Stein, H. Aerts, S. Gatt, M. Horowitz. Hum. Mol. Genet. 1997, 6:887-895.
24. Park J.K., Tayebi N., Stubblefield B.K., LaMarca M.E., MacKenzie J.J., Stone D.L., Sidransky E. The E326K mutation and Gaucher disease: mutation or polymorphism?. Clin. Genet. 2002, 61:32-34.
25. Goker-Alpan O., Schiffmann R., LaMarca M.E., Nussbaum R.L., McInerney-Leo A., Sidransky E. Parkinsonism among Gaucher disease carriers. J. Med. Genet. 2004, 41:937-940.
26. Halperin A., Elstein D., Zimran A. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol. Dis. 2006, 36:426-428.
27. Lwin A., Orvisky E., Goker-Alpan O., LaMarca M.E., Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol. Genet. Metab. 2004, 81:70-73.
28. Sidransky E. Heterozygosity for a Mendelian disorder as a risk factor for complex disease. Clin. Genet. 2006, 70:275-282.
29. Sidransky E., Nalls M.A., Aasly J.O., Aharon-Peretz J., Annesi G., Barbosa E.R., Bar-Shira A., Berg D., Bras J., Brice A., Chen C.M., Clark L.N., Condroyer C., De Marco E.V., Durr A., Eblan M.J., Fahn S., Farrer M.J., Fung H.C., Gan-Or Z., Gasser T., Gershoni-Baruch R., Giladi N., Griffith A., Gurevich T., Januario C., Kropp P., Lang A.E., Lee-Chen G.J., Lesage S., Marder K., Mata I.F., Mirelman A., Mitsui J., Mizuta I., Nicoletti G., Oliveira C., Ottman R., Orr-Urtreger A., Pereira L.V., Quattrone A., Rogaeva E., Rolfs A., Rosenbaum H., Rozenberg R., Samii A., Samaddar T., Schulte C., Sharma M., Singleton A., Spitz M., Tan E.K., Tayebi N., Toda T., Troiano A.R., Tsuji S., Wittstock M., Wolfsberg T.G., Wu Y.R., Zabetian C.P., Zhao Y., Ziegler S.G. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med. 2009, 361:1651-1661.
30. Spitz M., Rozenberg R., Silveira P.A., Barbosa E.R. Parkinsonism in type 1 Gaucher's disease. J. Neurol. Neurosurg. Psychiatry 2006, 77:709-710.
31. Ron I., Rapaport D., Horowitz M. Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease. Hum. Mol. Genet. 2010, 19:3771-3781.
32. Stone D.L., Tayebi N., Orvisky E., Stubblefield B., Madike V., Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum. Mutat. 2000, 15:181-188.
33. Orvisky E., Park J.K., Parker A., Walker J.M., Martin B.M., Stubblefield B.K., Uyama E., Tayebi N., Sidransky E. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. Hum. Mutat. 2002, 19:458-459.
34. Rozenberg R., Araujo F.T., Fox D.C., Aranda P., Nonino A., Micheletti C., Martins A.M., Cravo R., Sobreira E., Pereira L.V. High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients. Braz. J. Med. Biol. Res. 2006, 39:1171-1179.
35. Clark L.N., Kisselev S., Park N., Ross B., Verbitsky M., Rios E., Alcalay R.N., Lee J.H., Louis E.D. Mutations in the Parkinson's disease genes, leucine rich repeat kinase 2 (LRRK2) and glucocerebrosidase (GBA), are not associated with essential tremor. Parkinsonism Relat. Disord. 2010, 16:132-135.
36. Bras J., Paisan-Ruiz C., Guerreiro R., Ribeiro M.H., Morgadinho A., Januario C., Sidransky E., Oliveira C., Singleton A. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol. Aging 2009, 30:1515-1517.
37. 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, 452:87-89.
38. Neumann J., Bras J., Deas E., O'Sullivan S.S., Parkkinen L., Lachmann R.H., Li A., Holton J., Guerreiro R., Paudel R., Segarane B., Singleton A., Lees A., Hardy J., Houlden H., Revesz T., Wood N.W. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009, 132:1783-1794.
39. Nichols W.C., Pankratz N., Marek D.K., Pauciulo M.W., Elsaesser V.E., Halter C.A., Rudolph A., Wojcieszek J., Pfeiffer R.F., Foroud T. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009, 72:310-316.
40. Lesage S., Anheim M., Condroyer C., Pollak P., Durif F., Dupuits C., Viallet F., Lohmann E., Corvol J.C., Honore A., Rivaud S., Vidailhet M., Durr A., Brice A. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum. Mol. Genet. 2011, 20:202-210.