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Article: Three genes, four demyelinating neuropathies: First genotype/phenotype correlations | Trois genes et quatre neuropathies peripheriques myelinques: Premieres correlations genotype/phenotype

TitleThree genes, four demyelinating neuropathies: First genotype/phenotype correlations | Trois genes et quatre neuropathies peripheriques myelinques: Premieres correlations genotype/phenotype
Authors
KeywordsDemyelinating Neuropathy
Genotype
Hereditary Motor Sensory Neuropathy
Human
Myelin Sheath
Peripheral Neuropathy
Phenotype
Review
Schwann Cell
Issue Date1997
Citation
Medecine/Sciences, 1997, v. 13 n. 10, p. 1113-1122 How to Cite?
AbstractIn most vertebrates, axons are usually ensheathed by myelin, a multi-lamellar structure that ensures the fidelity of nerve transmission and increases considerably nerve conduction velocity along the fibers. In the peripheral nervous system (PNS), myelin is formed by the extension of the plasma membrane of Schwann cells that wrap in spiral as many as 50 layers of double membrane structures around the axon. The myelin sheaths consist mostly of compact myelin that expresses a distinct set of structural proteins, namely myelin protein zero (P0), which is the most abundant component, peripheral myelin protein 22 (PMP22) and myelin basic protein. PNS compact myelin is interrupted by regions filled with cytoplasm, the incisures of Schmidt-Lanterman. These and the paranodal regions of Schwann cells express a distinct set of proteins that include myelin-associated glycoprotein and connexin32 (Cx32). It has now been demonstrated that genetic abnormalities in the genes encoding PMP22, P0 and Cx32, are responsible for the vast majority of demyelinating peripheral neuropathies, known as Charcot-Marie-Tooth disease type 1, X-linked Charcot-Marie-Tooth, Dejerine-Sottas syndrome, hereditary neuropathy with liability to pressure palsies and congenital hypomyelination. PMP22 is an integral membrane protein whose function is still poorly understood. P0 is a cell adhesion protein that contributes a sort of adhesive tape that holds together the extracellular leaflets of compact myelin. Cx32 is a channel-forming protein that is thought to provide the basis for a radial diffusional pathway of signaling molecules and metabolites across the myelin layers. Recent studies on the molecular structure and cell biology of these three pivotal proteins for myelin homeostasis have begun to shed light on some of the pathophysiological mechanisms that are specific to each syndrome.
Persistent Identifierhttp://hdl.handle.net/10722/132737
ISSN
2015 Impact Factor: 0.384
2015 SCImago Journal Rankings: 0.188
References

 

DC FieldValueLanguage
dc.contributor.authorPhamDinh, Den_HK
dc.contributor.authorBlanquetGrossard, Fen_HK
dc.contributor.authorRessot, Cen_HK
dc.contributor.authorBruzzone, Ren_HK
dc.contributor.authorDautigny, Aen_HK
dc.date.accessioned2011-03-28T09:28:40Z-
dc.date.available2011-03-28T09:28:40Z-
dc.date.issued1997en_HK
dc.identifier.citationMedecine/Sciences, 1997, v. 13 n. 10, p. 1113-1122en_HK
dc.identifier.issn0767-0974en_HK
dc.identifier.urihttp://hdl.handle.net/10722/132737-
dc.description.abstractIn most vertebrates, axons are usually ensheathed by myelin, a multi-lamellar structure that ensures the fidelity of nerve transmission and increases considerably nerve conduction velocity along the fibers. In the peripheral nervous system (PNS), myelin is formed by the extension of the plasma membrane of Schwann cells that wrap in spiral as many as 50 layers of double membrane structures around the axon. The myelin sheaths consist mostly of compact myelin that expresses a distinct set of structural proteins, namely myelin protein zero (P0), which is the most abundant component, peripheral myelin protein 22 (PMP22) and myelin basic protein. PNS compact myelin is interrupted by regions filled with cytoplasm, the incisures of Schmidt-Lanterman. These and the paranodal regions of Schwann cells express a distinct set of proteins that include myelin-associated glycoprotein and connexin32 (Cx32). It has now been demonstrated that genetic abnormalities in the genes encoding PMP22, P0 and Cx32, are responsible for the vast majority of demyelinating peripheral neuropathies, known as Charcot-Marie-Tooth disease type 1, X-linked Charcot-Marie-Tooth, Dejerine-Sottas syndrome, hereditary neuropathy with liability to pressure palsies and congenital hypomyelination. PMP22 is an integral membrane protein whose function is still poorly understood. P0 is a cell adhesion protein that contributes a sort of adhesive tape that holds together the extracellular leaflets of compact myelin. Cx32 is a channel-forming protein that is thought to provide the basis for a radial diffusional pathway of signaling molecules and metabolites across the myelin layers. Recent studies on the molecular structure and cell biology of these three pivotal proteins for myelin homeostasis have begun to shed light on some of the pathophysiological mechanisms that are specific to each syndrome.en_HK
dc.languagefreen_US
dc.relation.ispartofMedecine/Sciencesen_HK
dc.subjectDemyelinating Neuropathyen_US
dc.subjectGenotypeen_US
dc.subjectHereditary Motor Sensory Neuropathyen_US
dc.subjectHumanen_US
dc.subjectMyelin Sheathen_US
dc.subjectPeripheral Neuropathyen_US
dc.subjectPhenotypeen_US
dc.subjectReviewen_US
dc.subjectSchwann Cellen_US
dc.titleThree genes, four demyelinating neuropathies: First genotype/phenotype correlations | Trois genes et quatre neuropathies peripheriques myelinques: Premieres correlations genotype/phenotypeen_HK
dc.typeArticleen_HK
dc.identifier.emailBruzzone, R: bruzzone@hkucc.hku.hken_HK
dc.identifier.authorityBruzzone, R=rp01442en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.scopuseid_2-s2.0-0030866747en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030866747&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume13en_HK
dc.identifier.issue10en_HK
dc.identifier.spage1113en_HK
dc.identifier.epage1122en_HK
dc.identifier.scopusauthoridPhamDinh, D=7003846115en_HK
dc.identifier.scopusauthoridBlanquetGrossard, F=6602267613en_HK
dc.identifier.scopusauthoridRessot, C=6603101410en_HK
dc.identifier.scopusauthoridBruzzone, R=7006793327en_HK
dc.identifier.scopusauthoridDautigny, A=7004049838en_HK

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