Mouse models of metachromatic leukodystrophy and adrenoleukodystrophy

Neuromethods

Volumn 48, Issue , 2011, Pages 493-513

  Aubourg, Patrick ^a   Sevin, Caroline ^a   Cartier, Nathalie ^a  

^a NONE

Author keywords

Adrenoleukodystrophy; Early stage pathology; knockout mouse models; Metachromatic leukodystrophy; Rotarod

Indexed keywords

MYELIN; SULFATIDE;

ADRENOLEUKODYSTROPHY; ARTICLE; CENTRAL NERVOUS SYSTEM; COGNITIVE DEFECT; DEMYELINATION; DISEASE MODEL; EMBRYONIC STEM CELL; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HOMOZYGOSITY; HUMAN; METACHROMATIC LEUKODYSTROPHY; MOUSE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ANIMALIA; MURINAE; MUS;

EID: 78650931616     PISSN: 08932336     EISSN: 19406045     Source Type: Book Series    
DOI: 10.1007/978-1-60761-898-0_26     Document Type: Article

References (68)

1. Von Figura K, Gieselmann V, Jaeken J (2001) Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) Childs B, kinzler kW, Vogelstein B (assoc eds) The metabolic and molecular bases of inherited disease, 8th edn. New York: McGraw-Hill, pp 3695-3724
2. Holtschmidt H, Sandhoff K, Kwon HY, et al. (1991) Sulfatide activator protein: alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. J Biol Chem 266:7556-7560
3. Gieselmann V, Matzner U, Hess B, et al. (1998) Metachromatic leukodystrophy: molecular genetics and an animal model. J Inherit Metab Dis 21:564-574
4. Sevin C, Aubourg P, Cartier N (2007) Enzyme, cell and gene-based therapies for metachro-matic leukodystrophy. J Inherit Metab Dis 30:175-183
5. Rauschka H, Colsch B, Baumann N, et al. (2006) Late-onset metachromatic leukody-strophy: genotype strongly infuences pheno-type. Neurology 67:859-863
6. Sung Kim T, Kim I-E, Sun kim W, et al. (1997) MR of childhood metachromatic leukodystro-phy. AJNR Am J Neuroradiol 18:733-738
7. Van der Voorn JP, Pouwels PJ, Kamphorst W, et al. (2005) Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. AJNR Am J Neuroradiol 26:442-446
8. Oguz kk, Anlar B, Senbil N, Cila A (2004) Diffusion-weighted imaging fndings in juvenile metachromatic leukodystrophy. Neurope-diatrics 35:279-282
9. Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP (1994) Molecular genetics of metachromatic leukodystrophy. Hum Mutat 1994:233-242 (Pubitemid 24361693)
10. Biff A, Cesani M, Fumagalli F, et al. (2008) Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet 74:349-357
11. Hess B, Saftig P, Hartmann D, et al. (1996) Phenotype of arylsulfatase A-defcient mice: relationship to human metachromatic leu-kodystrophy. Proc Natl Acad Sci U S A 93: 14821-14826
12. Sevin C, Benraiss A, Van Dam D, et al. (2006) Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy. Hum Mol Genet 15:53-64
13. Sevin C, Verot L, Benraiss A, et al. (2007) Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer. Gene Ther 14:405-414
14. Wittke D, Hartmann D, Gieselmann V, Lüllmann-Rauch R (2004) Lysosomal sul-fatide storage in the brain of arylsulfatase A-defcient mice: cellular alterations and topographic distribution. Acta Neuropathol 108: 261-271
15. Yaghootfam A, Gieselmann V, Eckhardt M (2005) Delay of myelin formation in arylsul-phatase A-defcient mice. Eur J Neurosci 21: 711-720
16. Givogri MI, Bottai D, Zhu HL, et al. (2008) Multipotential neural precursors transplanted into the metachromatic leukodystrophy brain fail to generate oligodendrocytes but contribute to limit brain dysfunction. Dev Neurosci 30:340-357
17. D'Hooge R, Hartmann D, Manil J, et al. (1999) Neuromotor alterations and cerebellar defcits in aged arylsulfatase A-defcient trans-genic mice. Neurosci Lett 273:93-96
18. D'Hooge R, Coenen R, Gieselmann V, Lüllmann-Rauch R, De Deyn PP (1999) Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-defcient mice. Brain Res 847:352-356
19. Coenen R, Gieselmann V, Lüllmann-Rauch R (2001) Morphological alterations in the inner ear of the arylsulfatase A-defcient mouse. Acta Neuropathol 101:491-498
20. Biff A, De Palma M, Quattrini A, et al. (2004) Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modifed hematopoietic stem cells. J Clin Invest 113:1118-1129
21. Schott I, Hartmann D, Gieselmann V, Lüllmann-Rauch R (2001) Sulfatide storage in visceral organs of arylsulfatase A-defcient mice. Virchows Arch 439:90-96
22. D'Hooge R, Van Dam D, Franck F, Gieselmann V, De Deyn PP (2001) Hyperac-tivity, neuromotor defects, and impaired learning and memory in a mouse model for metachro-matic leukodystrophy. Brain Res 907:35-43
23. Stroobants S, Leroy T, Eckhardt M, et al. (2008) Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy. Behav Brain Res 189:306-316
24. Saravanan K, Schaeren-Wiemers N, Klein D, et al. (2004) Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder. Neurobiol Dis 16:396-406
25. Griffths I, Klugmann M, Anderson T, et al. (1998) Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 280:1610-1613
26. Lappe-Siefke C, Goebbels S, Gravel M, et al. (2003) Disruption of Cnp1 uncouples oligo-dendroglial functions in axonal support and myelination. Nat Genet 33:366-374
27. Eckhardt M, Hedayati kk, Pitsch J, et al. (2007) Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystro-phy. J Neurosci 27:9009-9021
28. Ramakrishnan H, Hedayati kk, Lüllmann-Rauch R, et al. (2007) Increasing sulfatide synthesis in myelin-forming cells of arylsul- fatase A-defcient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy. J Neurosci 27:9482-9490
29. Matzner U, Matthes F, Herbst E, et al. (2007) Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leu-kodystrophy. Mol Med 13:471-479
30. Matzner U, Lüllmann-Rauch R, Stroobants S, et al. (2009) Enzyme replacement improves ataxic gait and central nervous system histopa-thology in a mouse model of metachromatic leukodystrophy. Mol Ther 17(4):600-606
31. Eckhardt M (2008) The role and metabolism of sulfatide in the nervous system. Mol Neurobiol 37:93-103
32. Molander-Melin M, Pernber Z, Franken S, et al.(2004) Accumulation of sulfatide in neu-ronal and glial cells of arylsulfatase A defcient mice. J Neurocytol 33:417-427
33. Lutjohann D, Harzer K, Gieselmann V, Eckhardt M (2006) Reduced brain cholesterol content in arylsulfatase A-defcient mice. Biochem Biophys Res Commun 34:647-650
34. Jeon SB, Yoon HJ, Park SH, Kim IH, Park EJ (2008) Sulfatide, a major lipid component of myelin sheath, activates infammatory responses as an endogenous stimulator in brain-resident immune cells. J Immunol 181:8077-8087
35. Mosser J, Douar AM, Sarde CO, et al. (1993) Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361:726-730
36. Dubois-Dalcq M, Feigenbaum V, Aubourg P (1999) The neurobiology of X-linked adreno-leukodystrophy, a demyelinating peroxisomal disorder. Trends Neurosci 22:4-12
37. Moser HW, Mahmood A, Raymond GV X-linked adrenoleukodystrophy. Nat Clin Pract Neurol 3:140-151
38. Ito M, Blumberg BM, Mock DJ, et al. (2001) Potential environmental and host participants in the early white matter lesion of adreno-leukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligoden-drocytes, and CD1-mediated lipid antigen presentation. J Neuropathol Exp Neurol 60:1004-1019
39. Powers JM, DeCiero DP, Ito M, Moser AB, Moser HW (2000) Adrenomyeloneuropathy: a neuropathologic review featuring its nonin-fammatory myelopathy. J Neuropathol Exp Neurol 5989-6102
40. Fouquet F, Zhou JM, Ralston E, et al. (1997) Expression of the adrenoleukodystrophy protein in the human and mouse central nervous system. Neurobiol Dis 3:271-285
41. Höftberger R, Kunze M, Weinhofer I, et al. (2007) Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleu- kodystrophy. Neurobiol Dis 28:165-174
42. kemp S, Wanders RJ (2007) X-linked adreno-leukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment. Mol Genet Metab 9:268-276
43. Liu LX, Janvier K, Berteaux-Lecellier V, et al. (1999) Homo- and heterodimerization of per-oxisomal ATP-binding cassette half-transporters. J Biol Chem 274:32738-32743
44. Guimarães CP, Domingues P, Aubourg P, et al. (2004) Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo. Biochim Biophys Acta 1689:235-243
45. Van Roermund CW, Visser WF, Ijlst L, et al. (2008) The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J 22: 4201-4208
46. Forss-Petter S, Werner H, Berger J, et al. (1997) Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice. J Neurosci Res 50:829-843
47. Lu JF, Lawler AM, Watkins PA, et al. (1997) A mouse model for X-linked adrenoleukodystro-phy. Proc Natl Acad Sci U S A 94:9366-9371
48. Pujol A, Hindelang C, Callizot N, et al. (2002) Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Hum Mol Genet 11:499-505
49. Pujol A, Ferrer I, Camps C, et al. (2004) Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. Hum Mol Genet 13:2997-3006
50. Fourcade S, López-Erauskin J, Galino J, et al. (2008) Early oxidative damage underlying neurodegeneration in X-adrenoleukodystro-phy. Hum Mol Genet 17:1762-1773
51. Dumser M, Bauer J, Lassmann H, Berger J, Forss-Petter S (2007) Lack of adrenoleukod-ystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag defciency. Acta Neuropathol 114:573-586
52. Ferrer I, Kapfhammer JP, Hindelang C, et al. (2005) Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage. Hum Mol Genet 14:3565-3577
53. Flavigny E, Sanhaj A, Aubourg P, Cartier N (1999) Retroviral-mediated adrenoleukodystr-ophy-related gene transfer corrects very long chain fatty acid metabolism in adrenoleu-kodystrophy fbroblasts: implications for therapy. FEBS Lett 448:261-264
54. Fourcade S, Ruiz M, Camps C, et al. (2009) A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis. Am J Physiol Endocrinol Metab 296:E211-E221
55. Dringen R, Gutterer JM, Hirrlinger J (2000) Glutathione metabolism in brain metabolic interaction between astrocytes and neurons in the defense against reactive oxygen species. Eur J Biochem 267:4912-4916
56. Khan M, Singh J, Singh I (2008) Plasmalogen defciency in cerebral adrenoleukodystrophy and its modulation by lovastatin. J Neurochem 106:1766-1779
57. Kemp S, Valianpour F, Denis S, et al. (2005) Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy. Mol Genet Metab 84: 144-151
58. Platta HW, El Magraoui F, Schlee D, et al. (2007) Ubiquitination of the peroxisomal import receptor Pex5p is required for its recycling. J Cell Biol 177:197-204
59. Baes M, Gressens P, Baumgart E, et al. (1997) A mouse model for Zellweger syndrome. Nat Genet 17:49-57
60. Gould SJ, Valle D (2000) Peroxisome biogenesis disorders: genetics and cell biology. Trends Genet 16:340-345
61. Kassmann CM, Lappe-Siefke C, Baes M, et al. (2007) Axonal loss and neuroinfammation caused by peroxisome-defcient oligodendro-cytes. Nat Genet 39: 969-976
62. Wanders RJ, Waterham HR (2006) Peroxisomal disorders: the single peroxisomal enzyme defciencies. Biochim Biophys Acta 1763:1707-1720
63. Purdue PE, Zhang JW, Skoneczny M, Lazarow PB (1997) Rhizomelic chondrodysplasia punc-tata is caused by defciency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet 15:381-384
64. Brites P, Mooyer PA, El Mrabet L, Waterham HR, Wanders RJ (2009) Plasmalogens participate in very-long-chain fatty acid-induced pathology. Brain 132:482-492
65. Moody DB, Zajonc DM, Wilson IA (2005) Anatomy of CD1-lipid antigen complexes. Nat Rev Immunol 5:387-399
66. Young DC, Moody DB (2006) T-cell recognition of glycolipids presented by CD1 proteins. Glycobiology 16:103R-112R
67. Moody DB (2006) TLR gateways to CD1 function. Nat Immunol 7:811-817
68. Cheng TY, Relloso M, Van Rhijn I, et al. (2006) Role of lipid trimming and CD1 groove size in cellular antigen presentation. EMBO J 25:2989-2999