A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter

Brain

Volumn 133, Issue 8, 2010, Pages 2448-2461

  Geva, Michal ^a,b   Cabilly, Yuval ^a   Assaf, Yaniv ^a   Mindroul, Nina ^a   Marom, Liraz ^a   Raini, Gali ^a   Pinchasi, Dalia ^a   Elroy Stein, Orna ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

CACH; Eif2b; Leucodystrophy; Mouse model; VWM

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR; MYELIN PROTEIN;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ASTROCYTE; BRAIN DEVELOPMENT; BRAIN MALFORMATION; BRAIN NERVE CELL; CATALYSIS; DEMYELINATION; ELECTRON MICROSCOPY; GENE LOCUS; HOMOZYGOSITY; IMMUNOHISTOCHEMISTRY; LEUKOENCEPHALOPATHY; MALE; MOUSE; NERVE FIBER; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODENDROGLIA; POINT MUTATION; PRIORITY JOURNAL; WHITE MATTER; AGING; ANIMAL; BRAIN; C57BL MOUSE; DEMYELINATING DISEASE; DISEASE COURSE; DISEASE MODEL; GENETICS; GROWTH, DEVELOPMENT AND AGING; METABOLISM; MYELINATED NERVE; PATHOLOGY; TRANSGENIC MOUSE;

AGING; ANIMALS; ASTROCYTES; AXONS; BRAIN; DEMYELINATING DISEASES; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; EUKARYOTIC INITIATION FACTOR-2B; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; MALE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MYELIN PROTEINS; NERVE FIBERS, MYELINATED; OLIGODENDROGLIA; POINT MUTATION;

EID: 77957039147     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq180     Document Type: Article

References (45)

1. Anderson TJ, Schneider A, Barrie JA, Klugmann M, McCulloch MC, Kirkham D, et al. Late-onset neurodegeneration in mice with increased dosage of the proteolipid protein gene. J Comp Neurol 1998; 349: 506-519
2. Ashburner J, Friston KJ. Voxel-based morphometry-the methods. Neuroimage 2000; 11: 805-821
3. Assaf Y. Can we use diffusion MRI as a bio-marker of neurodegenerative processes? Bioessays 2008; 30: 1235-1245
4. Barazany D, Basser PJ, Assaf Y. In vivo measurement of axon diameter distribution in the corpus callosum of rat brain. Brain 2009; 132: 1210-1220
5. Barnea-Goraly N, Menon V, Eckert M, Tamm L, Bammer R, Karchemskiy A, et al. White matter development during childhood and adolescence: a cross-sectional diffusion tensor imaging study. Cereb Cortex 2005; 15: 1848-1854
6. Basser PJ, Jones DK. Diffusion-tensor MRI: theory, experimental design and data analysis-a technical review. NMR Biomed 2002; 15: 456-467
7. Crum WR, Griffin LD, Hill DL, Hawkes DJ. Zen and the art of medical image registration: correspondence, homology, and quality. Neuroimage 2003; 20: 1425-1437
8. Damon-Perriere N, Menegon P, Olivier A, Boespflug-Tanguy O, Niel F, Creveaux I, et al. Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease. Clin Neurol Neurosurg 2008; 110: 1068-1071
9. Dever TE. Gene-specific regulation by general translation factors. Cell 2002; 108: 545-556
10. Dietrich J, Lacagnina M, Gass D, Richfield E, Mayer-Proschel M, Noble M, et al. EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. Nat Med 2005; 11: 277-283
11. Fogli A, Boespflug-Tanguy O. The large spectrum of eIF2B-related diseases. Biochem Soc Trans 2006; 34: 22-29
12. Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E, et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 2002; 52: 506-510
13. Francalanci P, Eymard-Pierre E, Dionisi-Vici C, Boldrini R, Piemonte F, Virgili R, et al. Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27. Neurology 2001; 57: 265-270
14. Gallo A, Rocca MA, Falini A, Scaglione C, Salvi F, Gambini A, et al. Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter. Neurology 2004; 62: 323-326
15. Gilad Sivan G, Kedersha N, Elroy-Stein O. Ribosomal slowdown mediates translational arrest during cellular division. Molec Cell Biol 2007; 27: 6639-6646.
16. Griffiths I, Klugmann M, Anderson T, Yool D, Thomson C, Schwab MH, et al. Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 1998; 280: 1610-1613
17. Gutman R, Choshniak I, Kronfeld-Schor N. Defending body mass during food restriction in Acomys russatus: a desert rodent that does not store food. Am J Physiol Regul Integr Comp Physiol 2006; 290: R881-91.
18. Hanefeld F, Holzbach U, Kruse B, Wilichowski E, Christen HJ, Frahm J. Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 1993; 24: 244-248
19. Kantor L, Harding HP, Ron D, Schiffmann R, Kaneski CR, Kimball SR, et al. Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients. Hum Genet 2005; 118: 99-106.
20. Kantor L, Pinchasi D, Mintz M, Hathout Y, Vanderver A, Elroy-Stein O. A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells. PLoS ONE 2008; 3: e3783.
21. Kimball SR, Everson WV, Flaim KE, Jefferson LS. Initiation of protein synthesis in a cell-free system prepared from rat hepatocytes. Am J Physiol 1989; 256: C28-34.
22. Labauge P, Horzinski L, Ayrignac X, Blanc P, Vukusic S, Rodriguez D, et al. Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 16 cases. Brain 2009; 132: 2161-2169
23. Leegwater PA, Vermeulen G, Konst AA, Naidu S, Mulders J, Visser A, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001; 29: 383-388
24. Matsushima GK, Morell P. The neurotoxicant, cuprizone, as a model to study demyelination and remyelination in the central nervous system. Brain Pathol 2001; 11: 107-116
25. McLaughlin M, Hunter DJ, Thomson CE, Yool D, Kirkham D, Freer AA, et al. Evidence for possible interactions between PLP and DM20 within the myelin sheath. Glia 2002; 39: 31-36
26. Noble M, Mayer-Proschel M, Miller RH. The oligodendrocyte. In: Rao MS, Jacobson M, editors. Developmental neurobiology. New York: Springer; 2005. p. 151-196
27. Paxinos G, Franklin KBJ. The mouse brain in stereotaxic coordinates. New York: Academic Press; 2001.
28. Pierpaoli C, Basser PJ. Toward a quantitative assessment of diffusion anisotropy. Magn Reson Med 1996; 36: 893-906.
29. Polito A, Reynolds R. NG2-expressing cells as oligodendrocyte progenitors in the normal and demyelinated adult central nervous system. J Anat 2005; 207: 707-716
30. Readhead C, Schneider A, Griffiths I, Nave K-A. Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. Neuron 1994; 12: 538-595
31. Rodriguez D, Gelot A, della Gaspera B, Robain O, Ponsot G, Sarlieve LL, et al. Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases. Acta Neuropathol (Berl) 1999; 97: 469-480
32. Schiffmann R, Elroy-Stein O. Childhood ataxia with CNS hypomyelination/ vanishing white matter disease-a common leukodystrophy caused by abnormal control of protein synthesis. Mol Genet Metab 2006; 88: 7-15.
33. Schiffmann R, Moller JR, Trapp BD, Shih HH, Farrer RG, Katz DA, et al. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 1994; 35: 331-340
34. Sonenberg N, Dever TE. Eukaryotic translation initiation factors and regulators. Curr Opin Struct Biol 2003; 13: 56-63.
35. Song SK, Yoshino J, Le TQ, Lin SJ, Sun SW, Cross AH, et al. Demyelination increases radial diffusivity in corpus callosum of mouse brain. Neuroimage 2005; 26: 132-40.
36. Van der Knaap MS, Kamphorst W, Bart h PG, Kraaijeveld CL, Gut E, Valk J. Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology 1998; 51: 540-547.
37. Van der Knaap MS, Pronk JC, Scheper GC. Vanishing white matter disease. Lancet Neurol 2006; 5: 413-423
38. Van der Voorn JP, van Kollenburg B, Bertrand G, Van Haren K, Scheper GC, Powers JM, et al. The unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol 2005; 64: 770-775
39. Van Haren K, van der Voorn JP, Peterson DR, van der Knaap MS, Powers JM. The life and death of oligodendrocytes in vanishing white matter disease. J Neuropathol Exp Neurol 2004; 63: 618-630
40. Van Kollenburg B, van Dijk J, Garbern J, Thomas AA, Scheper GC, Powers JM, et al. Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol 2006; 65: 707-715
41. Walsh RN, Cummins RA. The open-field test: a critical review. Psychol Bull 1976; 83: 482-504.
42. Werner HB, Kuhlmann K, Shen S, Uecker M, Schardt A, Dimova K, et al. Proteolipid protein is required for transport of sirtuin 2 into CNS myelin. J Neurosci 2007; 27: 7717-7730
43. Wong K, Armstrong RC, Gyure KA, Morrison AL, Rodriguez D, Matalon R, et al. Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome. Acta Neuropathol (Berl) 2000; 100: 635-646
44. Yamamura T, Konola JT, Wekerle H, Lees MB. Monoclonal antibodies against myelin proteolipid protein: identification and characterization of two major determinants. J Neurochem 1991; 57: 1671-1680
45. Yool DA, Klugmann M, McLaughlin M, Vouyiouklis DA, Dimou L, Barrie JA, et al. Myelin proteolipid proteins promote the interaction of oligodendrocytes and axons. J Neurosci Res 2001; 63: 151-164