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Molecular mechanisms of gap junction mutations in myelinating cells

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dc.contributor.authorSargiannidou, Irenees
dc.contributor.authorMarkoullis, Kyriakies
dc.contributor.authorKleopa, Kleopas A.
dc.date.accessioned2015-09-29T07:18:12Z
dc.date.available2015-09-29T07:18:12Z
dc.date.issued2010
dc.description.abstractThere is an emerging group of neurological disorders that result from genetic mutations affecting gap junction proteins in myelinating cells. The X-linked form of Charcot Marie Tooth disease (CMT1X) is caused by numerous mutations in the GJB1 gene encoding the gap junction protein connexin32 (Cx32), which is expressed in both Schwann cells in the PNS and oligodendrocytes in the CNS. Patients with CMT1X present mainly with a progressive peripheral neuropathy, showing mixed axonal and demyelinating features. In many cases there is also clinical or subclinical involvement of the CNS with acute or chronic phenotypes of encephalopathy. Furthermore, mutations in the GJA12/GJC2 gene encoding the gap junction protein Cx47, which is expressed in oligodendrocytes, have been identified in families with progressive leukodystrophy, known as Pelizaeus-Merzbacher-like disease, as well as in patients with hereditary spastic paraplegia. Recent studies have provided insights into the pattern of gap junction protein expression and function in CNS and PNS myelinating cells. Furthermore, in vitro and in vivo disease models have clarified some of the molecular and cellular mechanisms underlying these disorders. Here we provide an overview of the clinical, genetic, and neurobiological aspects of gap junction disorders affecting the nervous system.es
dc.formatapplication/pdfes
dc.format.extent16es
dc.identifier.issn0213-3911es
dc.identifier.urihttp://hdl.handle.net/10201/46336
dc.languageenges
dc.publisherMurcia : F. Hernándezes
dc.relation.ispartofHistology and histopathologyes
dc.rightsinfo:eu-repo/semantics/openAccesses
dc.subjectSchwann celles
dc.subjectOligodendrocytees
dc.subject.other616.8 - Neurología. Neuropatología. Sistema nerviosoes
dc.titleMolecular mechanisms of gap junction mutations in myelinating cellses
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
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Histology and histopathology Vol.25, nº9 (2010)