Publication: Molecular mechanisms of gap junction mutations in myelinating cells
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Date
2010
Authors
Sargiannidou, Irene ; Markoullis, Kyriaki ; Kleopa, Kleopas A.
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Publisher
Murcia : F. Hernández
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DOI
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info:eu-repo/semantics/article
Description
Abstract
There 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.
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