Structural study on mutant α-L-iduronidases: Insight into mucopolysaccharidosis type I

Journal of Human Genetics

Volumn 53, Issue 5, 2008, Pages 467-474

  Sugawara, Kanako ^a   Saito, Seiji ^b   Ohno, Kazuki ^c,e   Okuyama, Torayuki ^d   Sakuraba, Hitoshi ^a  

^a MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c TOKYO INSTITUTE OF TECHNOLOGY   (Japan)

^d NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^e ASTELLAS PHARMA INC   (Japan)

Author keywords

L Iduronidase; Hurler syndrome; Hurler Scheie syndrome; Mucopolysaccharidosis type I; Protein structure; Scheie syndrome

Indexed keywords

AMINO ACID; LEVO IDURONIDASE; MUTANT PROTEIN; SOLVENT;

AMINO ACID SUBSTITUTION; ARTICLE; ATOM; DISEASE SEVERITY; ENZYME STRUCTURE; GENE MUTATION; HURLER SYNDROME; IMAGING; MUTATIONAL ANALYSIS; PHENOTYPE; STRUCTURE ANALYSIS;

AMINO ACID SUBSTITUTION; HUMANS; IDURONIDASE; MODELS, MOLECULAR; MUCOPOLYSACCHARIDOSIS I; MUTATION, MISSENSE;

EID: 43449095983     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0272-4     Document Type: Article

References (37)

1. Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG (2001) Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet 109:503-511
2. Brooks DA (1993) Review: the immunochemical analysis of enzyme from mucopolysaccharidoses patients. J Inher Metab Dis 16:3-15
3. Brooks DA, Fabrega S, Hein LK, Parkinson EJ, Durand P, Yogalingam G, Matte U, Giugliani R, Dasvarma A, Eslahpazire J, Henrissat B, Mornon JP, Hopwood JJ, Lehn P (2001) Glycosidase active site mutations in human α-l-iduronidase. Glycobiology 11:741-750
4. Brooks DA (2002) α-l-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Biol Ther 2:967-976
5. Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A (1994a) 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 3:861-866
6. Bunge S, Steglich C, Kleijer WJ (1994b) Mucopolysaccharidosis type I. Identification of 93% of mutant alleles in a group of 70 patients. Am J Hum Genet 55:44
7. Clarke LA, Nelson PV, Warrington CL, Morris CP, Hopwood JJ, Scott HS (1994) Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. Hum Mutat 3:275-282
8. Dudek MJ, Ponder JW (1995) Accurate modeling of the intramolecular electrostatic energy of proteins. J Comput Chem 16:791-816
9. Kabsch W (1976) A solution for the best rotation to relate two sets of vectors. Acta Crystallogr A32:827
10. Kabsch W (1978) A discussion of the solution for the best rotation to relate two sets of vectors. Acta Crystallogr A34:922-923
11. Kong MJ, Ponder JW (1997) Reaction field methods for off-center multipoles. J Chem Phys 107:481-492
12. Kundrot CE, Ponder JW, Richards FM (1991) Algorithms for calculating excluded volume and its derivative as a function of molecular conformation and their use in energy minimization. J Comput Chem 12:402-409
13. Laradi S, Tukel T, Erazo M, Shabbeer J, Chkioua L, Khedhiri S, Ferchichi S, Chaabouni M, Miled A, Desnick RJ (2005) Mucopolysaccharidosis I: alpha-l-iduronidase mutations in three Tunisian families. J Inherit Metab Dis 28:1019-1026
14. Lee-Chen GJ, Wang TR (1997) Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. J Med Genet 34:939-941
15. Li P, Wood T, Thompson JN (2002) Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-l-iduronidase (IDUA) gene. Genet Med 4:420-426
16. Mahuran DJ (1999) Biochemical consequences of mutations causing the GM2 gangliosidosis. Biochem Biophys Acta 1455:105-108
17. Matsuzawa F, Aikawa S, Sakuraba H, Lan HT, Tanaka A, Ohono K, Sugimoto Y, Ninomiya H, Doi H (2003) Structural basis of the GM2 gangliosidosis B variant. J Hum Genet 48:582-589
18. Matsuzawa F, Aikawa S, Doi H, Okumiya T, Sakuraba H (2005) Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotype. Hum Genet 117:317-328
19. Matte U, Yogalingam G, Brooks D, Leistner S, Schwartz I, Lima L, Norato DY, Brum JM, Beesley C, Winchester B, Giugliani R, Hopwood JJ (2003) Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Mol Genet Metab 78:37-43
20. McDonald IK, Thornton JM (1994) Satisfying hydrogen bonding potential in proteins. J Mol Biol 238:777-793
21. Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3421-3452
22. Pappu RV, Hart RW, Ponder JW (1998) Analysis and application of potential energy smoothing for global optimization. J Phys Chem B102:9725-9742
23. Rempel BP, Clarke LA, Withers SG (2005) A homology model for human α-l-iduronidase: insights into human disease. Mol Genet Metab 85:28-37
24. Ren P, Ponder JW (2003) Polarizable atomic multipole water model for molecular mechanics simulation. J Phy Chem B107:5933-5947
25. Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Lin H, Ohno K, Tanaka A, Yamada H, Uyama E (2000) Molecular and structural studies of the GM2 gangliosidosis O variant. J Hum Genet 47:176-183
26. Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Nakada H, Fukushige T, Kanzaki T (2004) Structural and immunocytochemical studies on α-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). J Hum Genet 49:1-8
27. Scott HS, Ashton LJ, Eyre HJ, Backer E, Brooks DA, Callen DF, Sutherland GR, Morris CO, Hopwood JJ (1990) Chromosomal localization of the human α-l-iduronidase (IDUA) to 4p16.3. Am J Hum Genet 47:802-807
28. Scott HS, Guo X-H, Hopwood JJ, Morris CP (1992) Structure and sequence of the α-l-iduronidase gene. Genomics 13:1311-1313
29. Scott HS, Litjens T, Nelson PV, Thompson PR, Brooks DA, Hopwood JJ, Morris CP (1993) Identification of mutations in the alpha-l-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. Am J Hum Genet 53:973-986
30. Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ (1995) Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat 6:288-302
31. Teng YN, Wang TR, Hwu WL, Lin SP, Lee-Chen GJ (2000) Identification and characterization of -3c-g acceptor splice site mutation in human alpha-l-iduronidase associated with mucopolysaccharidosis type IH/S. Clin Genet 57:131-136
32. Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF (1995) Four novel mutations underlying mild or intermediate forms of alpha-l-iduronidase deficiency (MPS IS and MPS IH/S). Hum Mutat 6:55-59
33. Tylor JA, Gibson GJ, Brooks DA, Hopwood JJ (1991) α-l-iduronidase in normal and mucopolysaccharidosis type I human skin fibroblasts. Biochem J 274:263-268
34. Venturi N, Rovelli A, Parini R, Menni F, Brambillasca F, Bertagnolio F, Uziel G, Gatti R, Filocamo M, Donati MA, Biondi A, Goldwurm S (2002) Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations. Hum Mutat 20:231
35. Weiner SJ, Kallman PA, Case DA, Singh UC, Ghio C, Alagona G, Profeta S, Weiner P (1984) A new force field for molecular mechanical simulation of nucleic acids and proteins. J Am Chem Soc 106:765-784
36. Yamagishi A, Tomatsu S, Fukuda S, Uchiyama A, Shimozawa N, Suzuki Y, Kondo N, Sukegawa K, Orii T (1996) Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndrome in Japanese populations. Hum Mut 7:23-29
37. Yogalingam G, Guo XH, Muller VJ, Brooks DA, Clements PR, Kakkis ED, Hopwood JJ (2004) Identification and molecular characterization of alpha-l-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum Mutat 24:199-207