Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity

Muscle and Nerve

Volumn 43, Issue 5, 2011, Pages 665-670

  Bali, Deeksha S ^a   Tolun, Adviye A ^a   Goldstein, Jennifer L ^a   Dai, Jian ^a   Kishnani, Priya S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Acid glucosidase; Cross reactive immunological material; Enzyme assay; GAA; Pompe disease

Indexed keywords

ALPHA GLUCOSIDASE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; ENZYME ACTIVITY; GENE MUTATION; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PROCESSING; SCHOOL CHILD; SKIN FIBROBLAST; WESTERN BLOTTING;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ALPHA-GLUCOSIDASES; BLOTTING, WESTERN; CHILD; ENZYME ACTIVATION; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MIDDLE AGED; MUTATION; PROTEIN MODIFICATION, TRANSLATIONAL; YOUNG ADULT;

EID: 79955571079     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21933     Document Type: Article

References (49)

1. Amalfitano A, McVie-Wylie AJ, Hu H, Dawson TL, Raben N, Plotz P, Chen YT. Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase. Proc Natl Acad Sci USA 1999;96:8861-8866.
2. Hirschhorn R, Reuser AJ. Glycogen storage disease type II: acid aglucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AC, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill; 2000. p 3389-3420.
3. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8:267-288.
4. Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab 2008;93:275-281.
5. Laforet P, Nicolino M, Eymard PB, Puech JP, Caillaud C, Poenaru L, et al. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 2000;55:1122-1128.
6. Nascimbeni AC, Fanin M, Tasca E, Angelini C. Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency. Neurology 2008;70:617-626.
7. Reuser AJ, Kroos M, Willemsen R, Swallow D, Tager JM, Galjaard H. Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. J Clin Invest 1987;79:1689-1699.
8. Tajima Y, Matsuzawa F, Aikawa S, Okumiya T, Yoshimizu M, Tsukimura T, et al. Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase." J Hum Genet 2007;52:898-906.
9. Wokke JH, Ausems MG, van den Boogaard MJ, Ippel EF, van Diggelene O, Kroos MA, et al. Genotype-phenotype correlation in adultonset acid maltase deficiency. Ann Neurol 1995;38:450-454.
10. Schoser BG, Muller-Hocker J, Horvath R, Gempel K, Pongratz D, Lochmuller H, et al. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited. Neuropathol Appl Neurobiol 2007;33:544-559.
11. Vorgerd M, Burwinkel B, Reichmann H, Malin JP, Kilimann MW. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. Neurogenetics 1998;1:205-211.
12. Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, et al. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hum Mutat 2004;23:47-56.
13. Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, et al. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat 2008;29:E13-E26.
14. Sugawara K, Saito S, Sekijima M, Ohno K, Tajima Y, Kroos MA, et al. Structural modeling of mutant alpha-glucosidases resulting in a processing/ transport defect in Pompe disease. J Hum Genet 2009;54:324-330.
15. Moreland RJ, Jin X, Zhang XK, Decker RW, Albee KL, Lee KL, et al. Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor. J Biol Chem 2005;280: 6780-6791.
16. Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab 2010;99:26-33.
17. Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 2009;11:210-219.
18. Hermans MM, Kroos MA, van Beeumen J, Oostra BA, Reuser AJ. Human lysosomal alpha-glucosidase. Characterization of the catalytic site. J Biol Chem 1991;266:13507-13512.
19. Reuser AJ, Koster JF, Hoogeveen A, Galjaard H. Biochemical, immunological, and cell genetic studies in glycogenosis type II. Am J Hum Genet 1978;30:132-143.
20. Van Hove JL, Yang HW, Wu JY, Brady RO, Chen YT. High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease. Proc Natl Acad Sci USA 1996;93:65-70.
21. Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, et al. Recombinant human acid α-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007;68:99-109.
22. van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010;362:1396-1406.
23. Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, et al. p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? Eur J Hum Genet 2008;16:875-879.
24. Kumamoto S, Katafuchi T, Nakamura K, Endo F, Oda E, Okuyama T, et al. High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. Mol Genet Metab 2009;97:190-195.
25. Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, et al. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol Genet Metab 2010;99:379-383.
26. Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, et al. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab 2007;90:449-452.
27. Willemsen R, van der Ploeg AT, Busch HF, Zondervan PE, Van Noorden CJ, Reuser AJ. Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II. Ultrastruct Pathol 1993;17:515-527.
28. Whitaker CH, Felice KJ, Natowicz M. Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity. Muscle Nerve 2004;29:440-442.
29. Yan B, Raben N, Plotz PH. Hes-1, a known transcriptional repressor, acts as a transcriptional activator for the human acid alpha-glucosidase gene in human fibroblast cells. Biochem Biophys Res Commun 2002;291:582-587.
30. Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ, Van den Boogaard MJ, et al. Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. J Med Genet 1995;32:836-837.
31. Huie ML, Chen AS, Tsujino S, Shanske S, DiMauro S, Engel AG, et al. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T>G) mutation in a majority of patients and a novel IVS10 (+1GT>CT) mutation. Hum Mol Genet 1994;3:2231-2236.
32. Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC, et al. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 2008;122:e39-45.
33. Chien YH, Lee NC, Thurberg BL, Chiang SC, Zhang XK, Keutzer J, et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics 2009;124:e1116-e1125.
34. Kemper AR, Hwu WL, Lloyd-Puryear M, Kishnani PS. Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics 2007;120:e1327-e1334.
35. Young SP, Zhang H, Corzo D, Thurberg BL, Bali D, Kishnani PS, et al. Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker. Genet Med 2009;11:536-541.
36. Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, et al. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat 2006;27:999-1006.
37. Beesley CE, Child AH, Yacoub MH. The identification of five novel mutations in the lysosomal acid α-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Hum Mutat 1998;11:413.
38. Pittis MG, Donnarumma M, Montalvo AL, Dominissini S, Kroos M, Rosano C, et al. Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. Hum Mutat 2008;29:E27-E36.
39. Lam CW, Yuen YP, Chan KY, Tong SF, Lai CK, Chow TC, et al. Juvenile- onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene. Neurology 2003;60:715-717.
40. Pipo JR, Feng JH, Yamamoto T, Ohsaki Y, Nanba E, Tsujino S, et al. New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol 2003;29:284-287.
41. Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Willemsen R, Oostra BA, et al. The conservative substitution Asp-645→Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. Biochem J 1993;289:687-693.
42. Van der Kraan M, Kroos MA, Joosse M, Bijvoet AG, Verbeet MP, Kleijer WJ, et al. Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. Biochem Biophys Res Commun 1994;203:1535-1541.
43. Muller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 2007;17:698-706.
44. Gort L, Coll MJ, Chabas A. Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. Mol Genet Metab 2007;92:183-187.
45. Wan L, Lee CC, Hsu CM, Hwu WL, Yang CC, Tsai CH, Tsai FJ. Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. J Neurol 2008;255:831-838.
46. Reuser AJ, Kroos MA, Hermans MM, Bijvoet AG, Verbeet MP, Van Diggelen OP, et al. Glycogenosis type II (acid maltase deficiency). Muscle Nerve 1995;3(suppl):S61-S69.
47. Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, et al. Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/ deletions in the acid alpha-glucosidase locus of patients of differing phenotype. Biochem Biophys Res Commun 1998;244:921-927.
48. Adams EM, Becker JA, Griffith L, Segal A, Plotz PH, Raben N. Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans. Hum Mutat 1997;10:128-134.
49. Huie ML, Chen AS, Brooks SS, Grix A, Hirschhorn R. A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). Hum Mol Genet 1994;3:1081-1087.