PMID- 9700485
OWN - NLM
STAT- MEDLINE
DCOM- 19981030
LR  - 20231213
IS  - 0894-1491 (Print)
IS  - 0894-1491 (Linking)
VI  - 24
IP  - 1
DP  - 1998 Sep
TI  - Connexin32-null mice develop demyelinating peripheral neuropathy.
PG  - 8-20
AB  - Mutations in the gene encoding the gap junction protein connexin32 (Cx32) cause 
      X-linked Charcot-Marie-Tooth disease (CMTX), a common form of inherited 
      demyelinating peripheral neuropathy. To learn more about the pathogenesis of 
      CMTX, we examined the PNS and CNS of cx32-null mice (cx32-/Y males and 
      cx32-/-females) by light and electron microscopy. These mice develop a 
      progressive demyelinating peripheral neuropathy beginning by 3 months of age, and 
      at all ages, motor fibers are more affected than sensory fibers. Like other genes 
      of the X chromosome, the cx32 gene appears to be randomly inactivated, since only 
      some myelinating Schwann cells express Cx32 in heterozygous cx32 +/- females. 
      Heterozygous cx32 +/- females have fewer demyelinated and remyelinated axons than 
      age-matched homozygous cx32-/- females and cx32-/Y males. Although 
      oligodendrocytes also express Cx32, no abnormalities in CNS myelin were found. 
      These findings indicate that a null cx32 allele in myelinating Schwann cells is 
      sufficient to cause an inherited demyelinating neuropathy, so that Cx32 has an 
      essential role in myelinating Schwann cells both in mice and in humans.
FAU - Scherer, S S
AU  - Scherer SS
AD  - Department of Neurology, University of Pennsylvania Medical Center, Philidelphia 
      19104-6077, USA. scherer@mail.med.upenn.edu
FAU - Xu, Y T
AU  - Xu YT
FAU - Nelles, E
AU  - Nelles E
FAU - Fischbeck, K
AU  - Fischbeck K
FAU - Willecke, K
AU  - Willecke K
FAU - Bone, L J
AU  - Bone LJ
LA  - eng
GR  - NS08075/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Glia
JT  - Glia
JID - 8806785
RN  - 0 (Connexins)
SB  - IM
MH  - Aging/physiology
MH  - Animals
MH  - Central Nervous System/pathology
MH  - Connexins/*genetics
MH  - Demyelinating Diseases/*genetics/pathology/physiopathology
MH  - Female
MH  - Heterozygote
MH  - Immunohistochemistry
MH  - Male
MH  - Mice
MH  - Mice, Knockout/*genetics/*physiology
MH  - Microscopy, Electron
MH  - Myelin Sheath/physiology/ultrastructure
MH  - Peripheral Nervous System Diseases/*genetics/pathology/physiopathology
MH  - Schwann Cells/ultrastructure
MH  - Gap Junction beta-1 Protein
EDAT- 1998/08/13 00:00
MHDA- 1998/08/13 00:01
CRDT- 1998/08/13 00:00
PHST- 1998/08/13 00:00 [pubmed]
PHST- 1998/08/13 00:01 [medline]
PHST- 1998/08/13 00:00 [entrez]
AID - 10.1002/(SICI)1098-1136(199809)24:1<8::AID-GLIA2>3.0.CO;2-3 [pii]
AID - 10.1002/(sici)1098-1136(199809)24:1<8::aid-glia2>3.0.co;2-3 [doi]
PST - ppublish
SO  - Glia. 1998 Sep;24(1):8-20. doi: 
      10.1002/(sici)1098-1136(199809)24:1<8::aid-glia2>3.0.co;2-3.