Connexin32 and X-linked Charcot–Marie–Tooth Disease

Authors

Linda Jo Bone
Suzanne M. Deschênes, Sacred Heart UniversityFollow
Rita J. Balice-Gordon
Kenneth H. Fischbeck
Steven S. Scherer

Document Type

Article

Publication Date

1997

Abstract

Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein. In transfected cells, the mutant Cx32 proteins encoded by someCx32mutations fail to reach the cell surface; other mutant proteins reach the cell surface, but only one of these forms functional gap junctions. In peripheral nerve, Cx32 is localized to incisures and paranodes, regions of noncompact myelin within the myelin sheath. This localization suggests that Cx32 forms “reflexive” gap junctions that allow ions and small molecules to diffuse directly across the myelin sheath, which is a thousandfold shorter distance than the circumferential pathway through the Schwann cell cytoplasm.Cx32mutations may interrupt this shorter pathway or have other toxic effects, thereby injuring myelinating Schwann cells and their axons.

Comments

PMID: 9361298

DOI

10.1006/nbdi.1997.0152

Recommended Citation

Bone, L.J., Deschênes, S.M., Balice-Gordon, R.J., Fischbeck, K.H., & Scherer, S.S. (1997). Connexin32 and X-linked Charcot–Marie–Tooth disease". Neurobiology of Disease, 4(3-4), 221-230.