MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B

Brain

Volumn 135, Issue 7, 2012, Pages 2032-2047

  Saporta, Mario A C ^a,b   Shy, Brian R ^a   Patzko, Agnes ^a   Bai, Yunhong ^a,b   Pennuto, Maria ^c   Ferri, Cinzia ^c   Tinelli, Elisa ^c   Saveri, Paola ^c,d   Kirschner, Dan ^e   Crowther, Michelle ^e   Southwood, Cherie ^a   Wu, Xingyao ^a,b   Gow, Alexander ^a,f   Feltri, M Laura ^c,d   Wrabetz, Lawrence ^c,d   Shy, Michael E ^a,b  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d UNIVERSITY AT BUFFALO   (United States)

^e BOSTON COLLEGE   (United States)

^f WAYNE STATE UNIVERSITY   (United States)

Author keywords

Charcot Marie Tooth type 1B; Demyelination; Glial cells; Neuromuscular disorders; Neuropathy

Indexed keywords

GROWTH ARREST AND DNA DAMAGE INDUCIBLE PROTEIN 153; MYELIN; MYELIN PROTEIN; MYELIN PROTEIN ZERO; PROTEIN C JUN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL PROLIFERATION; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MOUSE; MUSCLE ACTION POTENTIAL; MYELIN DEFICIENCY; MYELINATION; NERVE CONDUCTION DISORDER; NONHUMAN; PRIORITY JOURNAL; SCHWANN CELL; UNFOLDED PROTEIN RESPONSE;

EID: 84863203827     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws140     Document Type: Article

References (42)

1. Angel P, Hattori K, Smeal T, Karin M. The jun proto-oncogene is positively autoregulated by its product, Jun/AP-1. Cell 1988; 55: 875-85.
2. Avila RL, Inouye H, Baek RC, Yin X, Trapp BD, Feltri ML, et al. Structure and stability of internodal myelin in mouse models of hereditary neuropathy. J Neuropathol Exp Neurol 2005; 64: 976-90. (Pubitemid 41668927)
3. Back SH, Lee K, Vink E, Kaufman RJ. Cytoplasmic IRE1alpha-mediated XBP1 mRNA splicing in the absence of nuclear processing and endoplasmic reticulum stress. J Biol Chem 2006; 281: 18691-706. (Pubitemid 44035530)
4. Back SH, Scheuner D, Han J, Song B, Ribick M, Wang J, et al. Translation attenuation through eIF2alpha phosphorylation prevents oxidative stress and maintains the differentiated state in beta cells. Cell Metab 2009; 10: 13-26.
5. Bai Y, Ianokova E, Pu Q, Ghandour K, Levinson R, Martin JJ, et al. Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Arch Neurol 2006; 63: 1787-94. (Pubitemid 44925090)
6. Feltri ML, Graus Porta D, Previtali SC, Nodari A, Migliavacca B, Cassetti A, et al. Conditional disruption of beta 1 integrin in Schwann cells impedes interactions with axons. J Cell Biol 2002; 156: 199-209. (Pubitemid 34846947)
7. Filbin MT, Walsh FS, Trapp BD, Pizzey JA, Tennekoon GI. Role of myelin P0 protein as a homophilic adhesion molecule. Nature 1990; 344: 871-2.
8. Gabreels-Festen AA, Hoogendijk JE, Meijerink PH, Gabreels FJ, Bolhuis PA, van Beersum S, et al. Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology 1996; 47: 761-5. (Pubitemid 26307309)
9. Giese KP, Martini R, Lemke G, Soriano P, Schachner M. Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 1992; 71: 565-76.
10. Gow A, Wrabetz L. CHOP and the endoplasmic reticulum stress response in myelinating glia. Curr Opin Neurobiol 2009; 19: 505-10.
11. Grandis M, Vigo T, Passalacqua M, Jain M, Scazzola S, La Padula V, et al. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet 2008; 17: 1877-89. (Pubitemid 351865837)
12. Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, et al. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 2003; 126 (Pt 1): 134-51. (Pubitemid 36068564)
13. Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, et al. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 1993; 5: 31-4. (Pubitemid 23261514)
14. Inouye H, Kirschner DA. Orientation of proteolipid protein in myelin: comparison of models with X-ray diffraction measurements. Dev Neurosci 1989; 11: 81-9. (Pubitemid 19149879)
15. Jessen KR, Mirsky R. Negative regulation of myelination: relevance for development, injury, and demyelinating disease. Glia 2008; 56: 1552-65.
16. Kamholz J, Menichella D, Jani A, Garbern J, Lewis RA, Krajewski KM, et al. Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Brain 2000; 123 (Pt 2): 222-33. (Pubitemid 30055147)
17. Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR. Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet 2005; 77: 841-50. (Pubitemid 41513284)
18. Kirschner DA, Szumowski K, Gabreels-Festen AA, Hoogendijk JE, Bolhuis PA. Inherited demyelinating peripheral neuropathies: relating myelin packing abnormalities to P0 molecular defects. J Neurosci Res 1996; 46: 502-8. (Pubitemid 26414577)
19. Komiyama A, Ohnishi A, Izawa K, Yamamori S, Ohashi H, Hasegawa O. De novo mutation (Arg98->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B. J Neurol Sci 1997; 149: 103-9. (Pubitemid 27196389)
20. Lemke G, Axel R. Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 1985; 40: 501-8. (Pubitemid 15076567)
21. Martini R. P0-deficient knockout mice as tools to understand pathomechanisms in Charcot-Marie-Tooth 1B and P0-related Dejerine-Sottas syndrome. Ann NY Acad Sci 1999; 883: 273-80. (Pubitemid 129495436)
22. Martini R, Zielasek J, Toyka KV, Giese KP, Schachner M. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet 1995; 11: 281-6.
23. Menichella DM, Arroyo EJ, Awatramani R, Xu T, Baron P, Vallat JM, et al. Protein zero is necessary for e-cadherin-mediated adherens junction formation in schwann cells. Mol Cell Neurosci 2001; 18: 606-18. (Pubitemid 34060143)
24. Miller LJ, Patzko A, Lewis RA, Shy ME. Phenotypic presentation of the Ser63del MPZ mutation. J Peripheral Nervous Syst, in press.
25. Monje PV, Soto J, Bacallao K, Wood PM. Schwann cell dedifferentiation is independent of mitogenic signaling and uncoupled to proliferation: role of cAMP and JNK in the maintenance of the differentiated state. J Biol Chem 2010; 285: 31024-36.
26. Nishitoh H, Saitoh M, Mochida Y, Takeda K, Nakano H, Rothe M, et al. ASK1 is essential for JNK/SAPK activation by TRAF2. Mol Cell 1998; 2: 389-95. (Pubitemid 128379279)
27. Nodari A, Previtali SC, Dati G, Occhi S, Court FA, Colombelli C, et al. Alpha6beta4 integrin and dystroglycan cooperate to stabilize the myelin sheath. J Neurosci 2008; 28: 6714-9.
28. Parkinson DB, Bhaskaran A, Arthur-Farraj P, Noon LA, Woodhoo A, Lloyd AC, et al. c-Jun is a negative regulator of myelination. J Cell Biol 2008; 181: 625-37. (Pubitemid 351717510)
29. Pennuto M, Tinelli E, Malaguti M, Del Carro U, D'Antonio M, Ron D, et al. Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice. Neuron 2008; 57: 393-405. (Pubitemid 351179164)
30. Saporta MA, Katona I, Lewis RA, Masse S, Shy ME, Li J. Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. Brain 2009; 132 (Pt 12): 3263-73.
31. Shapiro L, Doyle JP, Hensley P, Colman DR, Hendrickson WA. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 1996; 17: 435-49. (Pubitemid 26322215)
32. Shy ME, Arroyo E, Sladky J, Menichella D, Jiang H, Xu W, et al. Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP). J Neuropathol Exp Neurol 1997; 56: 811-21. (Pubitemid 27280192)
33. Shy ME, Jani A, Krajewski KM, Lewis RA, Li J, Shy RR, et al. Phenotypic clustering in MPZ mutations. Brain 2004; 127: 371-84. (Pubitemid 38160322)
34. Southwood CM, Garbern J, Jiang W, Gow A. The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron 2002; 36: 585-96. (Pubitemid 35350849)
35. Trapp BD, Hauer P, Lemke G. Axonal regulation of myelin protein mRNA levels in actively myelinating Schwann cells. J Neurosci 1988; 8: 3515-21.
36. Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, et al. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996; 17: 451-60.
37. Woodhoo A, Sommer L. Development of the Schwann cell lineage: from the neural crest to the myelinated nerve. Glia 2008; 56: 1481-90.
38. Wrabetz L, D'Antonio M, Pennuto M, Dati G, Tinelli E, Fratta P, et al. Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice. J Neurosci 2006; 26: 2358-68. (Pubitemid 44699045)
39. Wrabetz L, Feltri ML, Quattrini A, Imperiale D, Previtali S, D'Antonio M, et al. P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves. J Cell Biol 2000; 148: 1021-34.
40. Xu W, Manichella D, Jiang H, Vallat JM, Lilien J, Baron P, et al. Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis. J. Neurosci Res 2000; 60: 714-24. (Pubitemid 30399542)
41. Yin X, Kidd GJ, Wrabetz L, Feltri ML, Messing A, Trapp BD. Schwann cell myelination requires timely and precise targeting of P(0) protein. J Cell Biol 2000; 148: 1009-20.
42. Zinszner H, Kuroda M, Wang X, Batchvarova N, Lightfoot RT, Remotti H, et al. CHOP is implicated in programmed cell death in response to impaired function of the endoplasmic reticulum. Genes Dev 1998; 12: 982-95. (Pubitemid 28204605)