PMID- 20607661
OWN - NLM
STAT- MEDLINE
DCOM- 20101005
LR  - 20170217
IS  - 1699-5848 (Electronic)
IS  - 0213-3911 (Linking)
VI  - 25
IP  - 9
DP  - 2010 Sep
TI  - Molecular mechanisms of gap junction mutations in myelinating cells.
PG  - 1191-206
LID - 10.14670/HH-25.1191 [doi]
AB  - 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.
FAU - Sargiannidou, Irene
AU  - Sargiannidou I
AD  - Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia, 
      Cyprus.
FAU - Markoullis, Kyriaki
AU  - Markoullis K
FAU - Kleopa, Kleopas A
AU  - Kleopa KA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - Spain
TA  - Histol Histopathol
JT  - Histology and histopathology
JID - 8609357
RN  - 0 (Connexins)
SB  - IM
MH  - Animals
MH  - Connexins/*genetics
MH  - Demyelinating Diseases/genetics/physiopathology
MH  - Gap Junctions/*genetics/pathology
MH  - Humans
MH  - Mutation
MH  - Myelin Sheath/*genetics/pathology
MH  - Nervous System Diseases/*genetics/pathology/physiopathology
MH  - *Oligodendroglia
MH  - *Schwann Cells
RF  - 146
EDAT- 2010/07/08 06:00
MHDA- 2010/10/06 06:00
CRDT- 2010/07/08 06:00
PHST- 2010/07/08 06:00 [entrez]
PHST- 2010/07/08 06:00 [pubmed]
PHST- 2010/10/06 06:00 [medline]
AID - 10.14670/HH-25.1191 [doi]
PST - ppublish
SO  - Histol Histopathol. 2010 Sep;25(9):1191-206. doi: 10.14670/HH-25.1191.