Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients

BMC Neurology

Volumn 10, Issue , 2010, Pages

  Horzinski, Laetitia ^a,b   Kantor, Liraz ^c   Huyghe, Aurélia ^a,b   Schiffmann, Raphael ^d   Elroy Stein, Orna ^c   Boespflug Tanguy, Odile ^a,b,e   Fogli, Anne ^a,b,f  

^a Faculté de Médecine   (France)

^b UNIVERSITÉ CLERMONT AUVERGNE   (France)

^c TEL AVIV UNIVERSITY   (Israel)

^d BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^e HÔTEL DIEU   (France)

^f UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATING TRANSCRIPTION FACTOR 4; ASPARTATE AMMONIA LIGASE; GLUCOSE REGULATED PROTEIN 78; GROWTH ARREST AND DNA DAMAGE INDUCIBLE PROTEIN 153; GUANINE NUCLEOTIDE EXCHANGE FACTOR; MESSENGER RNA; THAPSIGARGIN; ATF4 PROTEIN, HUMAN; ENZYME INHIBITOR;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELLULAR STRESS RESPONSE; CHILD; CHILDHOOD ATAXIA WITH CENTRAL HYPOMYELINATION; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM STRESS; FIBROBLAST; GENE ACTIVITY; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHOBLAST; LYMPHOCYTE; POLYSOME; PRESCHOOL CHILD; PROTEIN SYNTHESIS; SCHOOL CHILD; TRANSCRIPTION INITIATION; VANISHING WHITE MATTER SYNDROME; CELL LINE; DRUG EFFECT; ENDOPLASMIC RETICULUM; FEMALE; GENETICS; INFANT; LEUKOENCEPHALOPATHY; MALE; METABOLISM; MUTATION; PHYSIOLOGICAL STRESS; PHYSIOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

ACTIVATING TRANSCRIPTION FACTOR 4; ADOLESCENT; BLOTTING, WESTERN; CELL LINE; CHILD; CHILD, PRESCHOOL; ENDOPLASMIC RETICULUM; ENZYME INHIBITORS; EUKARYOTIC INITIATION FACTOR-2B; FEMALE; HUMANS; INFANT; LEUKOENCEPHALOPATHIES; LYMPHOCYTES; MALE; MUTATION; PROTEIN BIOSYNTHESIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; STRESS, PHYSIOLOGICAL; THAPSIGARGIN;

EID: 77957902914     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-10-94     Document Type: Article

References (23)

1. 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, 35:331-40. 10.1002/ana.410350314, 8122885.
2. van der Knaap MS, Barth PG, Gabreëls FJ, Franzoni E, Begeer JH, Stroink H, Rotteveel JJ, Valk J. A new leukoencephalopathy with vanishing white matter. Neurology 1997, 48:845-55.
3. Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001, 29:383-88. 10.1038/ng764, 11704758.
4. van der Knaap MS, Leegwater PA, Könst AA, Visser A, Naidu S, Oudejans CB, Schutgens RB, Pronk JC. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002, 51:264-70. 10.1002/ana.10112, 11835386.
5. Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet 2003, 72:1544-50. 10.1086/375404, 1180314, 12707859.
6. Fogli A, Boespflug-Tanguy O. The large spectrum of eIF2B-related disease. Biochem Soc Trans 2006, 34:22-29. 10.1042/BST0340022, 16246171.
7. Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O. Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. Eur J Hum Genet 2004, 12:561-6. 10.1038/sj.ejhg.5201189, 15054402.
8. Pavitt GD, Ramaiah KV, Kimball SR, Hinnebusch AG. eIF2 independently binds two distinct eIF2B subcomplexes that catalyze and regulate guanine-nucleotide exchange. Genes Dev 1998, 12:514-26. 10.1101/gad.12.4.514, 316533, 9472020.
9. Kantor L, Harding HP, Ron D, Schiffmann R, Kaneski CR, Kimball SR, Elroy-Stein O. Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients. Hum Genet 2005, 118:99-106. 10.1007/s00439-005-0024-x, 16041584.
10. Richardson JP, Mohammad SS, Pavitt GD. Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity. Mol Cell Biol 2004, 24:2352-63. 10.1128/MCB.24.6.2352-2363.2004, 355856, 14993275.
11. Li W, Wang X, van der Knaap MS, Proud CG. Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. Mol Cell Biol 2004, 24:3295-306. 10.1128/MCB.24.8.3295-3306.2004, 381664, 15060152.
12. 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. Epub 2008 Nov 21, 10.1371/journal.pone.0003783, 2583043, 19023445.
13. van der Voorn JP, van Kollenburg B, Bertrand G, Van Haren K, Scheper GC, Powers JM, van der Knaap MS. The unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol 2005, 64:770-5. 10.1097/01.jnen.0000178446.41595.3a, 16141786.
14. van Kollenburg B, van Dijk J, Garbern J, Thomas AA, Scheper GC, Powers JM, van der Knaap MS. Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol 2006, 65:707-15. 10.1097/01.jnen.0000228201.27539.50, 16825957.
15. Pavitt GD, Proud CG. Protein synthesis and its control in neuronal cells with a focus on vanishing white matter disease. Bioch Soc Trans 2009, 37:1298-1310.
16. Horzinski L, Huyghe A, Cardoso MC, Gonthier C, Ouchchane L, Schiffmann R, Blanc P, Boespflug-Tanguy O, Fogli A. Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders. Plos Onet 2009, 4:e8318.
17. van Kollenburg B, Thomas AA, Vermeulen G, Bertrand GA, van Berkel CG, Pronk JC, Proud CG, van der Knaap MS, Scheper GC. Regulation of protein synthesis in lymphoblasts from vanishing white matter patients. Neurobiol Dis 2006, 21:496-504. 10.1016/j.nbd.2005.08.009, 16185887.
18. Neitzel H. A routine method for establishment of permanent growing lymphoblastoid cell lines. Hum Genet 1986, 73:320-6. 10.1007/BF00279094, 3017841.
19. Sivan G, Kedersha N, Elroy-Stein O. Ribosomal slowdown mediates translational arrest during cellular division. Mol Cell Biol 2007, 27:6639-46. 10.1128/MCB.00798-07, 2099241, 17664278.
20. Young P, Anderton E, Paschos K, White R, Allday MJ. Epstein-Barr virus nuclear antigen (EBNA) 3A induces the expression of and interacts with a subset of chaperones and co-chaperones. J Gen Virol 2008, 8:866-77.
21. Mosser DD, Caron AW, Bourget L, Meriin AB, Sherman MY, Morimoto RI, Massie B. The chaperone function of hsp70 is required for protection against stress-induced apoptosis. Mol Cell Biol 2000, 20:7146-59. 10.1128/MCB.20.19.7146-7159.2000, 86268, 10982831.
22. Balachandran S, Barber GN. Defective translational control facilitates vesicular stomatitis virus oncolysis. Cancer Cell 2004, 5:51-65. 10.1016/S1535-6108(03)00330-1, 14749126.
23. Dietrich J, Lacagnina M, Gass D, Richfield E, Mayer-Pröschel M, Noble M, Torres C, Pröschel C. EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. Nat Med 2005, 11:277-83. 10.1038/nm1195, 15723074.