Metachromatic leukodystrophy: Genetics, pathogenesis and therapeutic options

Acta Paediatrica, International Journal of Paediatrics

Volumn 97, Issue SUPPL. 457, 2008, Pages 15-21

  Gieselmann, Volkmar ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

Arylsulphatase A; Demyelination; Metachromatic leukodystrophy; Sulphatide

Indexed keywords

CEREBROSIDE SULFATASE; RECOMBINANT SULFATASE A; UNCLASSIFIED DRUG;

CONFERENCE PAPER; DEMYELINATION; ENZYME ACTIVITY; ENZYME REPLACEMENT; EPIGENETICS; GENE MUTATION; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEREDITY; HUMAN; METACHROMATIC LEUKODYSTROPHY; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ANIMALS; DISEASE MODELS, ANIMAL; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; LEUCINE; LEUKODYSTROPHY, METACHROMATIC; MICE; MICE, TRANSGENIC; MUTATION, MISSENSE; PHENOTYPE; PROLINE;

EID: 41049102552     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.00648.x     Document Type: Conference Paper

References (36)

1. von Figura K, Gieselmann V, Jaeken J. Metachromatic leukodystrophy. In : Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York : McGraw-Hill, 2001 : 3695 724.
2. Kreysing J, von Figura K, Gieselmann V. Structure of the arylsulfatase A gene. Eur J Biochem 1990 191 : 627 31.
3. Polten A, Fluharty A, Fluharty CB, Kappler J, von Figura K, Gieselmann V. Molecular basis of different forms of metachromatic leukosdystrophy. N Engl J Med 1991 324 : 18 22.
4. Berger J, Loschl B, Bernheimer H, Lugowska A, Tylki-Szymanska A, Gieselmann V, et al. Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy. Am J Med Genet 1997 69 : 335 40.
5. Schestag F, Yaghootfam A, Habetha M, Poeppel P, Dietz F, Klein RA, et al. The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A. Biochem J 2002 367 : 499 504.
6. von Bulow R, Schmidt B, Dierks T, Schwabauer N, Schilling K, Weber E, et al. Defective oligomerization of arylsulfatase A as a cause of its instability in lysosomes and metachromatic leukodystrophy. J Biol Chem 2002 277 : 9455 61.
7. Hess B, Kafert S, Heinisch U, Wenger DA, Zlotogora J, Gieselmann V. Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. Hum Mutat 1996 7 : 311 17.
8. Poeppel P, Habetha M, Marcao A, Bussow H, Berna L, Gieselmann V. Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. Febs J 2005 272 : 1179 88.
9. Conzelmann E, Sanfhoff K. Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev Neurosci 1983-4 6 : 58 71.
10. Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, et al. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. Neurology 2006 67 : 859 63.
11. Perusi C, Lira MG, Duyff RF, Weinstein HC, Pignatti PF, Rizzuto N, et al. Mutations associated with very late-onset metachromatic leukodystrophy. Clin Genet 1999 55 : 130.
12. Clarke JT, Skomorowski MA, Chang PL. Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy. Am J Med Genet 1989 33 : 10 13.
13. Arbour LT, Silver K, Hechtman P, Treacy EP, Coulter-Mackie MB. Variable onset of metachromatic leukodystrophy in a Vietnamese family. Pediatr Neurol 2000 23 : 173 6.
14. Hess B, Saftig P, Hartmann D, Coenen R, Lullmann-Rauch R, Goebel HH, et al. Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci USA 1996 93 : 14821 6.
15. Schott I, Hartmann D, Gieselmann V, Lullmann-Rauch R. Sulfatide storage in visceral organs of arylsulfatase A-deficient mice. Virchows Arch 2001 439 : 90 6.
16. Sevin C, Benraiss A, Van Dam D, Bonnin D, Nagels G, Verot L, et al. Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy. Hum Mol Genet 2006 15 : 53 64.
17. D'Hooge R, Van Dam D, Franck F, Gieselmann V, De Deyn PP. Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy. Brain Res 2001 907 : 35 43.
18. Wittke D, Hartmann D, Gieselmann V, Lullmann-Rauch R. Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution. Acta Neuropathol (Berl) 2004 108 : 261 71.
19. Peng L, Suzuki K. Ultrastructural study of neurons in metachromatic leukodystrophy. Clin Neuropathol 1987 6 : 224 30.
20. Saravanan K, Schaeren-Wiemers N, Klein D, Sandhoff R, Schwarz A, Yaghootfam A, et al. Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder. Neurobiol Dis 2004 16 : 396 406.
21. Jungalwala FB. Synthesis and turnover of cerebroside sulfate of myelin in adult and developing rat brain. J Lipid Res 1974 15 : 114 23.
22. Kornfeld S, Mellman I. The biogenesis of lysosomes. Annu Rev Cell Biol 1989 5 : 483 525.
23. Krivit W, Peters C, Shapiro EG. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr Opin Neurol 1999 12 : 167 76.
24. Malatack JJ, Consolini DM, Bayever E. The status of hematopoietic stem cell transplantation in lysosomal storage disease. Pediatr Neurol 2003 29 : 391 403.
25. Asheuer M, Pflumio F, Benhamida S, Dubart-Kupperschmitt A, Fouquet F, Imai Y, et al. Human CD34+ cells differentiate into microglia and express recombinant therapeutic protein. Proc Natl Acad Sci USA 2004 101 : 3557 62.
26. Bredius RG, Laan LA, Lankester AC, Poorthuis BJ, van Tol MJ, Egeler RM, et al. Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression. Bone Marrow Transplant 2007 39 : 309 10.
27. Sevin C, Aubourg P, Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J Inherit Metab Dis 2007 30 : 175 83.
28. Matzner U, Herbst E, Hedayati KK, Lullmann-Rauch R, Wessig C, Schroder S, et al. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum Mol Genet 2005 14 : 1139 52.
29. Consiglio A, Quattrini A, Martino S, Bensadoun JC, Dolcetta D, Trojani A, et al. In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice. Nat Med 2001 7 : 310 16.
30. Sevin C, Verot L, Benraiss A, Van Dam D, Bonnin D, Nagels G, et al. Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer. Gene Ther 2007 14 : 405 14.
31. Matzner U, Hartmann D, Lullmann-Rauch R, Coenen R, Rothert F, Mansson JE, et al. Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations. Gene Ther 2002 9 : 53 63.
32. Biffi A, Capotondo A, Fasano S, del Carro U, Marchesini S, Azuma H, et al. Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice. J Clin Invest 2006 116 : 3070 82.
33. Biffi A, De Palma M, Quattrini A, Del Carro U, Amadio S, Visigalli I, et al. Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. J Clin Invest 2004 113 : 1118 29.
34. Givogri MI, Galbiati F, Fasano S, Amadio S, Perani L, Superchi D, et al. Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy. J Neurosci 2006 26 : 3109 19.
35. Kawabata K, Migita M, Mochizuki H, Miyake K, Igarashi T, Fukunaga Y, et al. Ex vivo cell-mediated gene therapy for metachromatic leukodystrophy using neurospheres. Brain Res 2006 1094 : 13 23.
36. Klein D, Schmandt T, Muth-Kohne E, Perez-Bouza A, Segschneider M, Gieselmann V, et al. Embryonic stem cell-based reduction of central nervous system sulfatide storage in an animal model of metachromatic leukodystrophy. Gene Ther 2006 13 : 1686 95.