Involvement of ER stress in dysmyelination of pelizaeus-merzbacher disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes

Stem Cell Reports

Volumn 2, Issue 5, 2014, Pages 648-661

  Numasawa Kuroiwa, Yuko ^a   Okada, Yohei ^a,b   Shibata, Shinsuke ^a   Kishi, Noriyuki ^a   Akamatsu, Wado ^a   Shoji, Masanobu ^c   Nakanishi, Atsushi ^c   Oyama, Manabu ^a   Osaka, Hitoshi ^d   Inoue, Ken ^e   Takahashi, Kazutoshi ^f   Yamanaka, Shinya ^f   Kosaki, Kenjiro ^a   Takahashi, Takao ^a   Okano, Hideyuki ^a  

^a KEIO UNIVERSITY   (Japan)

^b AICHI MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c TAKEDA PHARMACEUTICAL COMPANY LIMITED   (Japan)

^d JICHI MEDICAL UNIVERSITY   (Japan)

^e NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^f KYOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE 3; GENOMIC DNA; KRUPPEL LIKE FACTOR 4; MYC PROTEIN; MYELIN BASIC PROTEIN; OCTAMER TRANSCRIPTION FACTOR 4; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PROTEOLIPID PROTEIN; TRANSCRIPTION FACTOR NANOG; TRANSCRIPTION FACTOR SOX2; PLP1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; MESSENGER RNA; OLIGODENDROCYTE TRANSCRIPTION FACTOR 2; PROTEOLIPID PROTEIN 1; TRANSCRIPTION FACTOR SOX1; UNCLASSIFIED DRUG; X BOX BINDING PROTEIN 1;

ADULT; APOPTOSIS; ARTICLE; ASTROCYTE; BRAIN; BRAIN STEM; CASE REPORT; CELL CLONE; CELL DIFFERENTIATION; CELL ISOLATION; CELL LINEAGE; CELL SELECTION; CELL STRUCTURE; CHILD; CHOREOATHETOSIS; CONTROLLED STUDY; CYTOPLASM; DISEASE SEVERITY; DOWN REGULATION; ENDOPLASMIC RETICULUM STRESS; EXON; GENE; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; LEUKOCYTE; MAGNETIC ACTIVATED CELL SORTING; MALE; MISSENSE MUTATION; MYELIN DEFICIENCY; MYELIN SHEATH; MYELINATION; NERVE CELL; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OLIGODENDROGLIA; PELIZAEUS MERZBACHER DISEASE; PLURIPOTENT STEM CELL; POINT MUTATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEOLIPID PROTEIN 1 GENE; PSYCHOMOTOR DISORDER; PYROSEQUENCING; QUADRIPLEGIA; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ROUGH ENDOPLASMIC RETICULUM; TRANSMISSION ELECTRON MICROSCOPY; UPREGULATION; WHITE MATTER; ADOLESCENT; ANIMAL; CELL CULTURE; CYTOLOGY; FEMALE; GENETICS; INFANT; METABOLISM; MOUSE; NONOBESE DIABETIC MOUSE; PATHOLOGY; PELIZAEUS-MERZBACHER DISEASE; RADIOGRAPHY; SCID MOUSE; TERATOMA; TRANSPLANTATION; YOUNG ADULT; ANIMAL EXPERIMENT; ANIMAL TISSUE; CELL MEMBRANE; EMBRYONIC STEM CELL; HUMAN TISSUE; IN VITRO STUDY; NEUROFILAMENT; NONHUMAN; PRESCHOOL CHILD; SKIN FIBROBLAST;

ADOLESCENT; ADULT; ANIMALS; BRAIN; CELL DIFFERENTIATION; CELLS, CULTURED; ENDOPLASMIC RETICULUM STRESS; FEMALE; HUMANS; INDUCED PLURIPOTENT STEM CELLS; INFANT; MALE; MICE; MICE, INBRED NOD; MICE, SCID; MUTATION, MISSENSE; MYELIN PROTEOLIPID PROTEIN; MYELIN SHEATH; OLIGODENDROGLIA; PELIZAEUS-MERZBACHER DISEASE; TERATOMA; TRANSCRIPTION FACTORS; YOUNG ADULT;

ANIMALIA;

EID: 84900311107     PISSN: 22136711     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.stemcr.2014.03.007     Document Type: Article

References (26)

1. J. Fan, H. Long, Y. Li, Y. Liu, W. Zhou, Q. Li, G. Yin, N. Zhang, and W. Cai Edaravone protects against glutamate-induced PERK/EIF2α/ATF4 integrated stress response and activation of caspase-12 Brain Res. 1519 2013 1 8
2. S. Gencic, D. Abuelo, M. Ambler, and L.D. Hudson Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein Am. J. Hum. Genet. 45 1989 435 442
3. A. Gow, and R.A. Lazzarini A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease Nat. Genet. 13 1996 422 428
4. A. Gow, V.L. Friedrich Jr., and R.A. Lazzarini Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport J. Neurosci. Res. 37 1994 574 583
5. A. Gow, A. Gragerov, A. Gard, D.R. Colman, and R.A. Lazzarini Conservation of topology, but not conformation, of the proteolipid proteins of the myelin sheath J. Neurosci. 17 1997 181 189
6. A. Gow, C.M. Southwood, and R.A. Lazzarini Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease J. Cell Biol. 140 1998 925 934
7. I. Griffiths, M. Klugmann, T. Anderson, D. Yool, C. Thomson, M.H. Schwab, A. Schneider, F. Zimmermann, M. McCulloch, N. Nadon, and K.A. Nave Axonal swellings and degeneration in mice lacking the major proteolipid of myelin Science 280 1998 1610 1613
8. M.E. Hodes, A. Aydanian, S.R. Dlouhy, D.T. Whelan, T. Heshka, and G. Ronen A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease Clin. Genet. 54 1998 248 249
9. B.Y. Hu, Z.W. Du, and S.C. Zhang Differentiation of human oligodendrocytes from pluripotent stem cells Nat. Protoc. 4 2009 1614 1622
10. Y. Imaizumi, Y. Okada, W. Akamatsu, M. Koike, N. Kuzumaki, H. Hayakawa, T. Nihira, T. Kobayashi, M. Ohyama, and S. Sato et al. Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue Mol. Brain 5 2012 35
11. M. Izrael, P. Zhang, R. Kaufman, V. Shinder, R. Ella, M. Amit, J. Itskovitz-Eldor, J. Chebath, and M. Revel Human oligodendrocytes derived from embryonic stem cells: Effect of noggin on phenotypic differentiation in vitro and on myelination in vivo Mol. Cell. Neurosci. 34 2007 310 323
12. S.M. Kang, M.S. Cho, H. Seo, C.J. Yoon, S.K. Oh, Y.M. Choi, and D.W. Kim Efficient induction of oligodendrocytes from human embryonic stem cells Stem Cells 25 2007 419 424
13. M.P. Lim, L.A. Devi, and R. Rozenfeld Cannabidiol causes activated hepatic stellate cell death through a mechanism of endoplasmic reticulum stress-induced apoptosis Cell Death Dis. 2 2011 e170
14. K. Mikoshiba, H. Okano, T. Tamura, and K. Ikenaka Structure and function of myelin protein genes Annu. Rev. Neurosci. 14 1991 201 217
15. S. Nori, Y. Okada, A. Yasuda, O. Tsuji, Y. Takahashi, Y. Kobayashi, K. Fujiyoshi, M. Koike, Y. Uchiyama, and E. Ikeda et al. Grafted human-induced pluripotent stem-cell-derived neurospheres promote motor functional recovery after spinal cord injury in mice Proc. Natl. Acad. Sci. USA 108 2011 16825 16830
16. S. Ohta, Y. Imaizumi, Y. Okada, W. Akamatsu, R. Kuwahara, M. Ohyama, M. Amagai, Y. Matsuzaki, S. Yamanaka, H. Okano, and Y. Kawakami Generation of human melanocytes from induced pluripotent stem cells PLoS ONE 6 2011 e16182
17. Y. Okada, T. Shimazaki, G. Sobue, and H. Okano Retinoic-acid- concentration-dependent acquisition of neural cell identity during in vitro differentiation of mouse embryonic stem cells Dev. Biol. 275 2004 124 142
18. Y. Okada, A. Matsumoto, T. Shimazaki, R. Enoki, A. Koizumi, S. Ishii, Y. Itoyama, G. Sobue, and H. Okano Spatiotemporal recapitulation of central nervous system development by murine embryonic stem cell-derived neural stem/progenitor cells Stem Cells 26 2008 3086 3098
19. F. Seitelberger Neuropathology and genetics of Pelizaeus-Merzbacher disease Brain Pathol. 5 1995 267 273
20. H. Shimada, Y. Okada, K. Ibata, H. Ebise, S. Ota, I. Tomioka, T. Nomura, T. Maeda, K. Kohda, and M. Yuzaki et al. Efficient derivation of multipotent neural stem/progenitor cells from non-human primate embryonic stem cells PLoS ONE 7 2012 e49469
21. K. Shimojima, T. Inoue, Y. Imai, Y. Arai, Y. Komoike, M. Sugawara, T. Fujita, H. Ideguchi, S. Yasumoto, and H. Kanno et al. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication J. Hum. Genet. 57 2012 580 586
22. C.M. Southwood, J. Garbern, W. Jiang, and A. Gow The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease Neuron 36 2002 585 596
23. K. Takahashi, K. Tanabe, M. Ohnuki, M. Narita, T. Ichisaka, K. Tomoda, and S. Yamanaka Induction of pluripotent stem cells from adult human fibroblasts by defined factors Cell 131 2007 861 872
24. C.E. Thomson, P. Montague, M. Jung, K.A. Nave, and I.R. Griffiths Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins Glia 20 1997 322 332
25. S. Wang, J. Bates, X. Li, S. Schanz, D. Chandler-Militello, C. Levine, N. Maherali, L. Studer, K. Hochedlinger, M. Windrem, and S.A. Goldman Human iPSC-derived oligodendrocyte progenitor cells can myelinate and rescue a mouse model of congenital hypomyelination Cell Stem Cell 12 2013 252 264
26. X. Yin, R.C. Baek, D.A. Kirschner, A. Peterson, Y. Fujii, K.A. Nave, W.B. Macklin, and B.D. Trapp Evolution of a neuroprotective function of central nervous system myelin J. Cell Biol. 172 2006 469 478