Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients

Molecular Genetics and Metabolism

Volumn 109, Issue 4, 2013, Pages 377-381

  Oussoren, Esmee ^a   Keulemans, Joke ^a   van Diggelen, Otto P ^a   Oemardien, Linda F ^a   Timmermans, Remco G ^a   van der Ploeg, Ans T ^a   Ruijter, George J G ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

l iduronidase; Hurler; Mucopolysaccharidosis; Newborn screening; Residual activity; Scheie

Indexed keywords

4 METHYLUMBELLIFERYL ALPHA LEVO IDURONIDE; HYMECROMONE GLUCURONIDE; LEVO IDURONIDASE; LYSINE; PHENYLALANINE; PROTEIN; UNCLASSIFIED DRUG; 4-METHYLUMBELLIFERYL IDURONIDE; HYMECROMONE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CLINICAL DECISION MAKING; CONTROLLED STUDY; DISEASE SEVERITY; EARLY DIAGNOSIS; ENZYME ACTIVITY; ENZYME ASSAY; FIBROBLAST; GENOTYPE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HURLER SYNDROME; INCUBATION TIME; INFANT; LIMIT OF QUANTITATION; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STABILITY; ANALOGS AND DERIVATIVES; CELL LINE; DIAGNOSTIC USE; ENZYMOLOGY; METABOLISM; MUCOPOLYSACCHARIDOSIS I; MUTATION; PATHOLOGY;

CELL LINE; EARLY DIAGNOSIS; FIBROBLASTS; HUMANS; HYMECROMONE; IDURONIDASE; INFANT, NEWBORN; MUCOPOLYSACCHARIDOSIS I; MUTATION;

EID: 84880843399     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.05.016     Document Type: Article

References (29)

1. Neufeld E.F., Muenzer J. The Metabolic Bases of Inherited Disease 2001, 2421-3452. McGraw-Hill, New York.
2. Giugliani R., Federhen A., Rojas M.V., Vieira T., Artigalas O., Pinto L.L., Azevedo A.C., Acosta A., Bonfim C., Lourenco C.M., Kim C.A., Horovitz D., Bonfim D., Norato D., Marinho D., Palhares D., Santos E.S., Ribeiro E., Valadares E., Guarany F., de Lucca G.R., Pimentel H., de Souza I.N., Correa J.S., Fraga J.C., Goes J.E., Cabral J.M., Simionato J., Llerena J., Jardim L., Giuliani L., da Silva L.C., Santos M.L., Moreira M.A., Kerstenetzky M., Ribeiro M., Ruas N., Barrios P., Aranda P., Honjo R., Boy R., Costa R., Souza C., Alcantara F.F., Avilla S.G., Fagondes S., Martins A.M. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genet. Mol. Biol. 2010, 33:589-604.
3. Bunge S., Clements P.R., Byers S., Kleijer W.J., Brooks D.A., Hopwood J.J. Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies. Biochim. Biophys. Acta 1998, 1407:249-256.
4. Terlato N.J., Cox G.F. Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet. Med. 2003, 5:286-294.
5. Bertola F., Filocamo M., Casati G., Mort M., Rosano C., Tylki-Szymanska A., Tuysuz B., Gabrielli O., Grossi S., Scarpa M., Parenti G., Antuzzi D., Dalmau J., Di Rocco M., Vici C.D., Okur I., Rosell J., Rovelli A., Furlan F., Rigoldi M., Biondi A., Cooper D.N., Parini R. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-l-iduronidase (IDUA) alleles. Hum. Mutat. 2011, 32:E2189-E2210.
6. Wang X., Zhang W., Shi H., Qiu Z., Meng Y., Yao F., Wei M. Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. Clin. Genet. 2012, 81:443-452.
7. Scott H.S., Guo X.H., Hopwood J.J., Morris C.P. Structure and sequence of the human alpha-l-iduronidase gene. Genomics 1992, 13:1311-1313.
8. Scott H.S., Bunge S., Gal A., Clarke L.A., Morris C.P., Hopwood J.J. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum. Mutat. 1995, 6:288-302.
9. Boelens J.J., Wynn R.F., O'Meara A., Veys P., Bertrand Y., Souillet G., Wraith J.E., Fischer A., Cavazzana-Calvo M., Sykora K.W., Sedlacek P., Rovelli A., Uiterwaal C.S., Wulffraat N. Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure. Bone Marrow Transplant. 2007, 40:225-233.
10. de Ru M.H., Boelens J.J., Das A.M., Jones S.A., van der Lee J.H., Mahlaoui N., Mengel E., Offringa M., O'Meara A., Parini R., Rovelli A., Sykora K.W., Valayannopoulos V., Vellodi A., Wynn R.F., Wijburg F.A. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J. Rare Dis. 2011, 6:55.
11. Beck M. Therapy for lysosomal storage disorders. IUBMB Life 2010, 62:33-40.
12. Kakkis E.D., Muenzer J., Tiller G.E., Waber L., Belmont J., Passage M., Izykowski B., Phillips J., Doroshow R., Walot I., Hoft R., Neufeld E.F. Enzyme-replacement therapy in mucopolysaccharidosis I. N. Engl. J. Med. 2001, 344:182-188.
13. Blanchard S., Sadilek M., Scott C.R., Turecek F., Gelb M.H. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin. Chem. 2008, 54:2067-2070.
14. Yogalingam G., Guo X.H., Muller V.J., Brooks D.A., Clements P.R., Kakkis E.D., Hopwood J.J. Identification and molecular characterization of alpha-l-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum. Mutat. 2004, 24:199-207.
15. Stirling J.L., Robinson D., Fensom A.H., Benson P.F., Baker J.E. Fluorimetric assay for prenatal detection of Hurler and Scheie homozygotes or heterozygotes. Lancet 1978, 1:147.
16. O'Brien J.S., Okada S., Chen A., Fillerup D.L. Tay-Sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. N. Engl. J. Med. 1970, 283:15-20.
17. Prommajan K., Ausavarat S., Srichomthong C., Puangsricharern V., Suphapeetiporn K., Shotelersuk V. A novel p.E276K IDUA mutation decreasing alpha-l-iduronidase activity causes mucopolysaccharidosis type I. Mol. Vis. 2011, 17:456-460.
18. Pollard L.M., Jones J.R., Wood T.C. Molecular Characterization of 355 Mucopolysaccharidosis Patients Reveals 104 Novel Mutations. J. Inherit. Metab. Dis. 2013, 36:179-187.
19. Dipple K.M., McCabe E.R. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 2000, 66:1729-1735.
20. Bradley G.M., Blackman S.M., Watson C.P., Doshi V.K., Cutting G.R. Genetic modifiers of nutritional status in cystic fibrosis. Am. J. Clin. Nutr. 2012, 96:1299-1308.
21. Dipple K.M., McCabe E.R. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol. Genet. Metab. 2000, 71:43-50.
22. Vockley J., Rinaldo P., Bennett M.J., Matern D., Vladutiu G.D. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol. Genet. Metab. 2000, 71:10-18.
23. Sriram G., Martinez J.A., McCabe E.R., Liao J.C., Dipple K.M. Single-gene disorders: what role could moonlighting enzymes play?. Am. J. Hum. Genet. 2005, 76:911-924.
24. Dipple K.M., Phelan J.K., McCabe E.R. Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol. Genet. Metab. 2001, 74:45-50.
25. Laradi S., Tukel T., Erazo M., Shabbeer J., Chkioua L., Khedhiri S., Ferchichi S., Chaabouni M., Miled A., Desnick R.J. Mucopolysaccharidosis I: alpha-l-Iduronidase mutations in three Tunisian families. J. Inherit. Metab. Dis. 2005, 28:1019-1026.
26. Teng Y.N., Wang T.R., Hwu W.L., Lin S.P., Lee-Chen G.J. Identification and characterization of -3c-g acceptor splice site mutation in human alpha-l-iduronidase associated with mucopolysaccharidosis type IH/S. Clin. Genet. 2000, 57:131-136.
27. Bunge S., Kleijer W.J., Steglich C., Beck M., Zuther C., Morris C.P., Schwinger E., Hopwood J.J., Scott H.S., Gal A. Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-l-iduronidase mutations (W402X and Q70X) among European patients. Hum. Mol. Genet. 1994, 3:861-866.
28. Sugawara K., Saito S., Ohno K., Okuyama T., Sakuraba H. Structural study on mutant alpha-l-iduronidases: insight into mucopolysaccharidosis type I. J. Hum. Genet. 2008, 53:467-474.
29. Harzer K., Rolfs A., Bauer P., Zschiesche M., Mengel E., Backes J., Kustermann-Kuhn B., Bruchelt G., van Diggelen O.P., Mayrhofer H., Krageloh-Mann I. Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. Neuropediatrics 2003, 34:301-306.