In vitro correction of ARSA deficiency in human skin fibroblasts from Metachromatic Leukodystrophy patients after treatment with microencapsulated recombinant cells

Metabolic Brain Disease

Volumn 23, Issue 4, 2008, Pages 469-484

  Lagranha, Valeska Lizzi ^a,b   Baldo, Guilherme ^a,b   De Carvalho, Talita Giacomet ^b   Burin, Maira ^b   Saraiva Pereira, Maria Luiza ^a,b   Matte, Ursula ^b   Giugliani, Roberto ^a,b  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

Alginate; Arylsulfatase A; Cell encapsulation; Gene therapy; Metachromatic leukodystrophy

Indexed keywords

CEREBROSIDE SULFATASE;

ANIMAL CELL; ARTICLE; CELL CLONE; CELL ENCAPSULATION; CELL STRAIN BHK; CELL THERAPY; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; METACHROMATIC LEUKODYSTROPHY; NONHUMAN; PROTEIN EXPRESSION; SKIN FIBROBLAST;

ANALYSIS OF VARIANCE; CAPSULES; CELL TRANSPLANTATION; CELLS, CULTURED; CEREBROSIDE-SULFATASE; FIBROBLASTS; GENE THERAPY; GENETIC ENGINEERING; GENETIC VECTORS; HUMANS; IMPLANTS, EXPERIMENTAL; KIDNEY; LEUKODYSTROPHY, METACHROMATIC; STATISTICS, NONPARAMETRIC; TRANSGENES;

EID: 55149083949     PISSN: 08857490     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11011-008-9107-4     Document Type: Article

References (40)

1. G Altarescu S Hill E Wiggs N Jeffries C Kreps CC Parker RO Brady NW Barton R Schiffmann 2001 The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease J Pediatr 138 539 547
2. S Andersson DL Davis H Dahlbäck H Jörnvall DW Russell 1989 Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme J Biol Che 264 8222 8229
3. DS Anson J Bielicki JJ Hopwood 1992 Correction of mucopolysaccharidosis type I fibroblasts by retroviral-mediated transfer of the human alpha-L-iduronidase gene Hum Gene Ther 3 4 371 379
4. J Bloch AC Bachoud-Lévi N Déglon JP Lefaucheur L Winkel S Palfi JP Nguyen C Bourdet V Gaura P Remy P Brugières MF Boisse S Baudic P Cesaro P Hantraye P Aebischer M Peschanski 2004 Neuroprotective gene therapy for Huntington's disease, using polymer-encapsulated cells engineered to secrete human ciliary neurotrophic factor: results of a phase I study Hum Gene Ther 15 10 968 975
5. AR Brooks RN Harkins P Wang HS Qian P Liu GM Rubanyi 2004 Transcriptional silencing is associated with extensive methylation of the CMV promoter following adenoviral gene delivery to muscle J Gene Med 6 4 395 404
6. A Capotondo M Cesani S Pepe S Fasano S Gregori L Tononi MA Venneri R Brambilla A Quattrini A Ballabio MP Cosma L Naldini A Biffi 2007 Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy Hum Gene Ther 18 821 836
7. SH Cheng AE Smith 2003 Gene therapy progress and prospects: gene therapy of lysosomal storage disorders Gene Ther 10 16 1275 1281
8. A Consiglio S Martino D Dolcetta G Cusella M Conese S Marchesini G Benaglia L Wrabetz A Orlacchio N Déglon P Aebischer GM Severini C Bordignon 2007 Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts J Neurol Sci 255 7 16
9. A Consiglio A Quattrini S Martino JC Bensadoun D Dolcetta A Trojani G Benaglia S Marchesini V Cestari A Oliverio C Bordignon L Naldini 2001 In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice Nat Med 7 310 316
10. RJ Desnick EH Schuchman 2002 Enzyme replacement and enhancement therapies: lessons from lysosomal disorders Nat Rev Genet 3 954 966
11. A Friso R Tomanin S Alba N Gasparotto EP Puicher M Fusco G Hortelano J Muenzer O Marin F Zacchello M Scarpa 2005 Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts J Gene Med 7 1482 1491
12. G Grassi P Maccaroni R Meyer H Kaiser D E Ambrosio E Pascale M Grassi A Kuhn P Di Nardo R Kandolf JH Küpper 2003 Inhibitors of DNA methylation and histone deacetylation activate cytomegalovirus promoter-controlled reporter gene expression in human glioblastoma cell line U87 Carcinogenesis 24 10 1625 1635
13. ED Kakkis E Schuchman X He Q Wan S Kania S Wiemelt CW Hasson T O'Malley MA Weil GA Aguirre DE Brown ME Haskins 2001 Enzyme replacement therapy in feline mucopolysaccharidosis I Mol Genet Metab 72 199 208
14. E Kamensky M Philippart P Cancilla SP Frommes 1973 Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features Am J Pathol 73 1 59 80
15. JM Kuijlen BJ de Haan W Helfrich JF de Boer D Samplonius JJ Mooij P de Vos 2006 The efficacy of alginate encapsulated CHO-K1 single chain-TRAIL producer cells in the treatment of brain tumors J Neurooncol 78 31 39
16. M Lee-Vaupel E Conzelmann 1987 A simple chromogenic assay for arylsulfatase A Clin Chim Acta 164 171 180
17. O Lindvall LU Wahlberg 2008 Encapsulated cell biodelivery of GDNF: a novel clinical strategy for neuroprotection and neuroregeneration in Parkinson's disease? Exp Neurol 209 82 88
18. OH Lowry NJ Rosebrough AL Farr RJ Randall 1951 Protein measurement with the Folin phenol reagent J Biol Chem 193 265 275
19. A Maass SJ Langer S Oberdorf-Maass S Bauer L Neyses LA Leinwand 2003 Rational promoter selection for gene transfer into cardiac cells J Mol Cell Cardiol 35 7 823 831
20. Mabe-Santana P (2006) La enfermedad de Krabbe y la leucodistrofia metacromática. In: Sanjurjo P, Baldellou A (eds), Diagnóstico y tratamiento de las enfermedades metabólicas hereditárias, Ed. Ergon, pp 639-650
21. J Marcus S Honigbaum S Shroff K Honke J Rosenbluth JL Dupree 2006 Sulfatide is essencial for the maintenance of CNS myelin and axon struture Glia 53 372 381
22. U Matzner E Herbst KK Hedayati R Lüllmann-Rauch C Wessig S Schröder C Eistrup C Möller J Fogh V Gieselmann 2005 Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy Hum Mol Genet 14 1139 1152
23. Molinas MMB (2005) Transient Transfection of HEK293 Cells in Suspension: Process Characterization and Optimization by Applying Invasive Nucleotide and Non-invasive Electronic Nose Technology, Doctoral Thesis
24. H Nakama K Ohsugi T Otsuki I Date M Kosuga T Okuyama N Sakuragawa 2006 Encapsulation cell therapy for mucopolysaccharidosis type VII using genetically engineered immortalized human amniotic epithelial cells Tohoku J Exp Med 209 23 32
25. JA Nelson C Reynolds-Kohler BA Smith 1987 Negative and positive regulation by a short segment in the 5′-flanking region of the human cytomegalovirus major immediate-early gene Mol Cell Biol 7 4125 4129
26. MA Passini JH Wolfe 2001 Widespread gene delivery and structure-specific patterns of expression in the brain after intraventricular injections of neonatal mice with an adeno-associated virus vector J Virol 75 12382 12392
27. MA Passini SL Macauley MR Huff TV Taksir J Bu IH Wu PA Piepenhagen JC Dodge LS Shihabuddin CR O'Riordan EH Schuchman GR Stewart 2005 AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease Mol Ther 11 754 762
28. J Pérez-Calvo P Giraldo GM Pastores M Fernández- Galán G Martín-Nuñez M Pocoví 2003 Extended interval between enzyme therapy infusions for adult patients with Gaucher's disease type 1 J Postgrad Med 49 127 131
29. QIAGEN (1999) The QIAGEN transfection resource book
30. CJ Ross M Ralph PL Chang 2000 Somatic gene therapy for a neurodegenerative disease using microencapsulated recombinant cells Exp Neurol 166 276 286
31. K Saravanan H Büssow N Weiler V Gieselmann S Franken 2007 Spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy Neurosci Methods 161 2 223 233
32. I Schott D Hartmann V Gieselmann R Lüllmann-Rauch 2001 Sulfatide storage in visceral organs of arylsulfatase A-deficient mice Virchows Arch 439 1 90 96
33. C Stein V Gieselmann J Kreysing B Schimidt R Pohlmann A Waheed HE Meyer JS O'brien K Von Figura 1989 Cloning and expression of human arylsulfatase A J Biol Chem 264 1252 1259
34. Suzuki K (1977) Globoid cell leukodystrophy (Krabbe disease) and GM1 gangliosidosis. In: Glew RH, Petersen SP (eds) Pratical enzymology of the sphingolipidosis. Alan R. Liss, New York
35. C Teschendorf KH Warrington DW Siemann N Muzyczka 2002 Comparison of the EF-1 alpha and the CMV promoter for engineering stable tumor cell lines using recombinant adeno-associated virus Anticancer Res 22 6A 3325 3330
36. T Visted R Bjerkvig PO Enger 2001 Cell encapsulation technology as a therapeutic strategy for CNS malignancies Neuro Oncol 3 201 210
37. Von Figura K, Gieselmann V, Jaeken J (2001) Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3695-3724
38. D Wittke D Hartmann V Gieselmann R Lüllmann-Rauch 2004 Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution Acta Neuropathol 108 4 261 271
39. JE Wraith 2001 Enzyme replacement therapy in mucopolysaccharidosis type I: progress and emerging difficulties J Inherit Metab Dis 24 245 250
40. H Yoshida I Date T Shingo K Fujiwara Y Miyoshi T Furuta T Ohmoto 1999 Evaluation of reaction of primate brain to grafted PC12 cells Cell Transplant 8 427 430