PMID- 25449862
OWN - NLM
STAT- MEDLINE
DCOM- 20151012
LR  - 20150511
IS  - 1872-7972 (Electronic)
IS  - 0304-3940 (Linking)
VI  - 596
DP  - 2015 Jun 2
TI  - Connexins, gap junctions and peripheral neuropathy.
PG  - 27-32
LID - S0304-3940(14)00845-3 [pii]
LID - 10.1016/j.neulet.2014.10.033 [doi]
AB  - Gap junctions (GJs) have emerged as an important molecular component of 
      peripheral myelinated fibers following the discovery of mutations affecting the 
      GJ protein connexin32 (Cx32) in patients with the X-linked Charcot-Marie-Tooth 
      neuropathy (CMT1X). CMT1X is the second most common CMT form and is caused by 
      over 400 different mutations in the GJB1 gene encoding Cx32. In peripheral 
      nerves, Cx32 is expressed by Schwann cells and forms reflexive GJs through 
      non-compact myelin areas, which allow the diffusion of ions and small molecules 
      including second messengers across apposed cell membranes connecting directly the 
      Schwann cell perinuclear cytoplasm with the adaxonal cell compartment inside the 
      myelin sheath. GJs formed by Cx32 play an important role in the homeostasis of 
      myelinated axons. Patients with CMT1X typically present with a progressive 
      peripheral neuropathy characterized by mixed demyelinating and axonal features 
      electrophysiologically and pathologically, which may be accompanied by transient 
      or chronic CNS myelin dysfunction. Both in vitro and in vivo models of the 
      disease indicate that most Cx32 mutations cause loss of function and inability of 
      the mutant Cx32 to form functional GJs. Increased understanding of CMT1X 
      pathogenesis will lead to the development of effective therapies for this 
      currently incurable disease.
CI  - Copyright (c) 2014 Elsevier Ireland Ltd. All rights reserved.
FAU - Kleopa, Kleopas A
AU  - Kleopa KA
AD  - Neurology Clinics, The Cyprus Institute of Neurology and Genetics and Cyprus 
      School of Molecular Medicine, Nicosia, Cyprus; Neuroscience Laboratory, The 
      Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular 
      Medicine, Nicosia, Cyprus. Electronic address: kleopa@cing.ac.cy.
FAU - Sargiannidou, Irene
AU  - Sargiannidou I
AD  - Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics and 
      Cyprus School of Molecular Medicine, Nicosia, Cyprus.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20141024
PL  - Ireland
TA  - Neurosci Lett
JT  - Neuroscience letters
JID - 7600130
RN  - 0 (Connexins)
SB  - IM
MH  - Animals
MH  - Axons/pathology
MH  - Charcot-Marie-Tooth Disease/metabolism/pathology/physiopathology
MH  - Connexins/genetics/*metabolism
MH  - Gap Junctions/*metabolism
MH  - Genetic Diseases, X-Linked/metabolism/pathology/physiopathology
MH  - Humans
MH  - Mutation
MH  - Peripheral Nervous System Diseases/*metabolism/pathology/physiopathology
OTO - NOTNLM
OT  - Cx32
OT  - Myelinated fibers
OT  - Schwann cells
OT  - X-linked Charcot-Marie-Tooth disease (CMT1X)
EDAT- 2014/12/03 06:00
MHDA- 2015/10/13 06:00
CRDT- 2014/12/03 06:00
PHST- 2014/07/30 00:00 [received]
PHST- 2014/10/15 00:00 [revised]
PHST- 2014/10/17 00:00 [accepted]
PHST- 2014/12/03 06:00 [entrez]
PHST- 2014/12/03 06:00 [pubmed]
PHST- 2015/10/13 06:00 [medline]
AID - S0304-3940(14)00845-3 [pii]
AID - 10.1016/j.neulet.2014.10.033 [doi]
PST - ppublish
SO  - Neurosci Lett. 2015 Jun 2;596:27-32. doi: 10.1016/j.neulet.2014.10.033. Epub 2014 
      Oct 24.