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Molecular Biology of Hereditary Motor and Sensory Neuropathies

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Cell Biology and Pathology of Myelin

Part of the book series: Altschul Symposia Series ((ALSS,volume 4))

Abstract

Myelin is mainly composed of lipids with a quantitatively minor, but functionally important contribution of proteins. During the development of the PNS and in adulthood, the continuous bi-directional dialogue between axon and Schwann cell regulates a temporally and spatially precise pattern of myelin protein expression in the complex myelin structure as a prerequisite for the correct function of the various myelin proteins (reviewed by Snipes and Suter, 1995a).

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References

  • Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U (1995): Hypermyelination and demyelinating peripheral neuropathy in PMP22-deficient mice. Nature Genet 11: 274–280.

    Article  PubMed  CAS  Google Scholar 

  • Baechner D, Liehr T, Hameister H, Altenberger H, Grehl H, Suter U, Rautenstrauss B (1995): Widespread expression of the peripheral myelin protein-22 gene (PMP22) in the neural and non-neural tissues during murine development. J Neurosci Res 42: 735–741.

    Article  Google Scholar 

  • Bergoffen J, Scherer SS, Wang S, Oronzi Scott M, Bone LJ, Paul DL, Chen K, Lensch MW, Chance P, Fischbek K (1993): Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262: 2039–2042.

    Article  PubMed  CAS  Google Scholar 

  • Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ. Disteche CM, Bird TD (1993). DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143–51.

    Article  PubMed  CAS  Google Scholar 

  • Charcot J-M, Marie P (1886): Sur une forme particulière d’atrophie musculaire progressive souvent familiale de-butant par les pieds et les jambes et atteignant plus dard les mains. Rev Méd (Paris) 6: 97–138.

    Google Scholar 

  • Dyck PJ, Chance P, Lebo R, Carney JA (1993): Hereditary motor and sensory neuropathies. In Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds): “Peripheral neuropathy” Philadelphia: Saunders WB, pp 194–1136.

    Google Scholar 

  • Fabbretti E, Edomi P, Brancolini C, Schneider C (1995): Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMTIA. Genes & Devel 9: 1846–1856.

    Article  CAS  Google Scholar 

  • Fannon AM, Sherman DL, llyina-Gragerova G, Brophy PJ, Friedrich VLJ, Colman DR (1995). Novel E-cadherinmediated adhesion in peripheral nerve: Schwann cell architecture is stabilized by autotypic adherens junctions. J Cell Biol 129: 189–202.

    Article  PubMed  CAS  Google Scholar 

  • Fischer I, and Sapirstein VS (1994): Molecular cloning of plasmolipin; characterization of a novel proteolipid restricted to brain and kidney. J Biol Chem 269: 24912–24919.

    PubMed  CAS  Google Scholar 

  • Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR (1995): Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type IA duplication. Neurology 45: 2090–2093.

    Article  PubMed  CAS  Google Scholar 

  • Giese KP, Martini R, Lemke G, Soriano P. Schachner M (1992): Mouse PO gene disruption leads to abnormal expression of recognition molecules and degeneration of myelin and axons. Cell 71: 565–576.

    Article  PubMed  CAS  Google Scholar 

  • Gillen C. Gleichmann M, Greiner-Petter R, Zoidl G, Kupfer S, Bosse F, Auer J, Mueller. HW (1996): Full-length cloning, expression and cellular localization of rat plasmolipin mRNA, a proteolipid of PNS and CNS. Eur J Neurosci 8: 405–414.

    Article  PubMed  CAS  Google Scholar 

  • Gillespie CS, Sherman DL, Blair GE, Brophy PJ (1994): Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment. Neuron 12: 497–508.

    Article  PubMed  CAS  Google Scholar 

  • Haney C, Snipes GJ, Shooter EM, Suter U, Garcia C, Griffin JW, Trapp BD (1996): Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type IA. J Neuropath Exp Neurol 55: 290–299.

    Article  PubMed  CAS  Google Scholar 

  • Huxley C, Passage E, Manson A, Putzu G. Figarella-Branger D, Pelissier JF. Fontes M (1996): Construction of a mouse model of Charcot-Marie-Tooth disease type IA by pronuclear injection of human YAC DNA. Hum Mol Genet 5: 563–569.

    Article  PubMed  CAS  Google Scholar 

  • Kim T, Fiedler K, Madison DL, Krueger WH, Pfeiffer SE (1995): Cloning and characterization of MVP17: A developmentally regulated myelin protein in oligodendrocytes. J Neurosci Res 42: 413–422.

    Article  PubMed  CAS  Google Scholar 

  • Kumar NM, Gilula NB (1996): The gap junction communication channel. Cell 84: 381–388.

    Article  PubMed  CAS  Google Scholar 

  • Lemke G (1993): The molecular genetics of myelination: an update. Glia 7: 263–271.

    Article  PubMed  CAS  Google Scholar 

  • Lupski JR, Garcia CA, Parry GJ, Patel PI (1991): Charcot-Marie-Tooth polyneuropathy syndrome: clinical, elecrophysiological, and genetic aspects. In Apel S (ed): “Current Neurology” Chicago: Mosby-Yearbook, pp l-25.

    Google Scholar 

  • Lupski JR, de Oca Luna RM. Slaugenhaupt S, Pentao L. Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991): DNA duplication associated with Charcot-MarieTooth disease type I A. Cell 66: 219–32.

    CAS  Google Scholar 

  • Magyar JP, Martini R, Ruelicke T, Aguzzi A, Adlkofer K, Dembic Z, Zielasek J, Toyka KV, Suter U (1996): Impaired differentiation of Schwann Cells in transgenic mice with increased PMP22 gene dosage. J Neurosci In press.

    Google Scholar 

  • Martini R (1994). Expression and functional roles of neural cell surface molecules and extracellular matrix components during development and regeneration of peripheral nerves. J Neurocytol 23: 1–28.

    Article  PubMed  CAS  Google Scholar 

  • Martini R, Mohajeri HM, Kasper S, Giese KR Schachner M (1994): Mice doubly deficient in the genes for PO and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin. J Neurosci 15: 4488–4495.

    Google Scholar 

  • Martini R, Zielasek R, Toyka KV, Giese KP, Schachner M (1995): Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of human inherited neuropathies. Nature Genet 11: 281–286.

    Article  PubMed  CAS  Google Scholar 

  • Marvin KW, Wataru F, Jetten, AM (1995): Identification and characterization of a novel squamous cell-associatec gene related to PMP22. J Biol Chem 270: 28910–28916.

    Article  PubMed  CAS  Google Scholar 

  • Mirsky R, Jessen KR (1996): Schwann cell development, differentiation and myelination. Cur Opin Neurobiol 6: 89–96.

    Article  CAS  Google Scholar 

  • Nave K, Boespflug-Tanguy O (1996): X-linked developmental defects of myelination: From mouse mutants to human genetic diseases. The Neuroscientist 1: 33–43.

    Google Scholar 

  • Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, Baas F (1994): A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nature Genet 6: 263–266.

    Article  PubMed  CAS  Google Scholar 

  • Pareek S, Suter U, Snipes GJ, Welcher AA, Shooter EM, Murphy RA (1993): Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells. J Biol Chem 268: 10372–10379.

    PubMed  CAS  Google Scholar 

  • Parmantier E, Cabon F, Braun C, D’Urso D, Mueller HW, Zalc B (1995): Peripheral myelin protein-22 is expressed in rat and mouse brain and spinal cord motoneurons. Eur J Neurosci 7: 1080–1088.

    Article  PubMed  CAS  Google Scholar 

  • Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U (1992). The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type IA. Nature Genet 1: 159–165.

    Article  PubMed  CAS  Google Scholar 

  • Reiter LT, Murakami T, Koeuth T, Pentao L, Muzni DM, Gibbs RA, Lupski JR (1996): A recomination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nature Genet 12: 288–297.

    Article  PubMed  CAS  Google Scholar 

  • Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Shooter EM, Patel PI, Lupski JR (1993a): Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type IA. Nature Genet 5: 189–194.

    Article  PubMed  CAS  Google Scholar 

  • Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR (1993b): Charcot-Marie-Tooth disease type IA: Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329: 96–101.

    Article  PubMed  CAS  Google Scholar 

  • Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (1993c): Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genet 5: 269–272.

    Article  PubMed  CAS  Google Scholar 

  • Roa BB, Warner LE, Garcia CA, Russo D, Lovelance R, Chance PF, Lupski JR (1996): Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease Hum Mutat 7: 36–45.

    CAS  Google Scholar 

  • Schaeren-Wiemers N, Valenzuela DM, Frank M, Schwab ME (1995): Characterization of a rat gene, rMAL, encoding a protein with four hydrophobic domains in central and peripheral myelin. J Neurosci 15: 5753–5764.

    PubMed  CAS  Google Scholar 

  • Scherer SS, Deschenes SM, Xu Y-t, Grinspan JB, Fischbeck KH, Paul DL (1995a): Connexin32 is a myelin-related protein in the PNS and the CNS. J Neurosci 15: 8281–8294.

    PubMed  CAS  Google Scholar 

  • Scherer SS, Xu Y-T, Bannerman PGC, Sherman DL, Brophy PJ (19956): Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development. Development 121: 4265–4273.

    Google Scholar 

  • Sereda M, Griffiths I, Pühlhofer A, Stewart H, Rossner MJ, Zimmermann F, Magyar JP, Schneider A, Hund E, Meinck H-M, Suter U, Nave KA (1996): A rat transgenic model for Charcot-Marie-Tooth disease. Neuron In press.

    Google Scholar 

  • Snipes GJ, Suter U, Welcher AA, Shooter EM (1992): Characterization of a novel peripheral nervous system myelin protein (PMP22/SR13). J Cell Biol 117: 225–238.

    Article  PubMed  CAS  Google Scholar 

  • Snipes GJ, Suter U, Shooter EM (1993): Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate epitope. J Neurochem 61: 1961–1964.

    Article  PubMed  CAS  Google Scholar 

  • Snipes GJ, Suter U (1995a): Molecular anatomy and genetics of myelin proteins in the peripheral nervous system. J Anat 186: 483–494.

    PubMed  CAS  Google Scholar 

  • Snipes GJ, Suter U (19956). Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models. Brain Path 5: 233–247.

    Google Scholar 

  • Spray DC, Dermietzel R (1995): X-linked Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system. Trends Neurosci 18: 256–262.

    PubMed  CAS  Google Scholar 

  • Spreyer P, Kuhn G, Hanemann CO, Gillen C, Schaal H, Kuhn R, Lemke G, Muller, HW (1991): Axon-regulated expression of a Schwann cell transcript that is homologous to a `growth arrest-specific’ gene. EMBO J 10: 3661–3668.

    PubMed  CAS  Google Scholar 

  • Suter U, Welcher AA, Ozcelik T, Snipes GJ, Kosaras B, Francke U, Billings GS, Sidman RL, Shooter EM (1992a). Trembler mouse carries a point mutation in a myelin gene. Nature 356: 241–244.

    Article  PubMed  CAS  Google Scholar 

  • Suter U, Moskow JJ, Welcher AA, Snipes GJ, Kosaras B, Sidman RL, Buchberg AM, Shooter EM (1992b): A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc Natl Acad Sci USA 89: 4382–4386.

    Article  PubMed  CAS  Google Scholar 

  • Suter U, Welcher AA, Snipes GJ (1993): Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system. Trends Neurosci 16: 50–56.

    Article  PubMed  CAS  Google Scholar 

  • Suter U, Snipes GJ, Schoener-Scott R, Welcher AA, Pareek S, Lupski JR, Murphy RA, Shooter EM, Patel PI (1994): Regulation of tissue-specific expression of alternative peripheral meyelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem 269: 25795–25808.

    PubMed  CAS  Google Scholar 

  • Suter U, Patel, PI (1994): Genetic basis of inherited peripheral neuropathies. Hum Mutat 3: 95–102.

    Article  PubMed  CAS  Google Scholar 

  • Suter U, Snipes GJ (1995a): Biology and genetics of hereditary motor and sensory neuropathies. Ann Rev Neuro-sci 18: 45–75.

    Article  CAS  Google Scholar 

  • Suter U, Snipes GJ (1995b): Peripheral myelin protein 22: Facts and hypotheses. J Neurosci Res 40:145–151. Taylor V, Welcher AA, Amgen Est Programm, Suter U (1995): Epithelial membrane protein-1, peripheral myelin protein 22 and lens membrane protein 20 define a novel gene family. J Biol Chem 270: 28824–28833.

    Google Scholar 

  • Taylor V, Suter U (1996): Epithelial membrane protein-2 and epithelial membrane protein-3: Two novel members of the peripheral myelin protein 22 gene family. Gene In the press.

    Google Scholar 

  • Tooth HH (1886): The peroneal type of progressive muscular atrophy. London England: HK Lewis.

    Google Scholar 

  • Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, Bosch NHA, Zorn I, Gabreels-Festen AAWM, deVisser M, Bolhuis PA (1992): Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type la. Nature Genet 2: 288–291.

    Article  PubMed  CAS  Google Scholar 

  • Welcher AA, Suter U, De Leon M, Snipes GJ, Shooter EM (1991): A myelin protein is encoded by the homologue of a growth arrest-specific gene. Proc Natl Acad Sci USA 88:7195–7199

    Google Scholar 

  • Windebank AJ (1993): Inherited recurrent focal neuropathies. In Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds): “Peripheral neuropathy” Philadelphia: Saunders WB, pp 194–1136.

    Google Scholar 

  • Zoidl G, Blass-Kampmann SD, `Urso D, Schmalenbach C, Müller HW (1995): Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth. EMBO J 14: 1122–1128.

    Google Scholar 

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© 1997 Springer Science+Business Media New York

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Suter, U. (1997). Molecular Biology of Hereditary Motor and Sensory Neuropathies. In: Juurlink, B.H.J., Devon, R.M., Doucette, J.R., Nazarali, A.J., Schreyer, D.J., Verge, V.M.K. (eds) Cell Biology and Pathology of Myelin. Altschul Symposia Series, vol 4. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5949-8_5

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  • DOI: https://doi.org/10.1007/978-1-4615-5949-8_5

  • Publisher Name: Springer, Boston, MA

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  • Online ISBN: 978-1-4615-5949-8

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