Connexin32 and X-linked Charcot-Marie-Tooth disease.

Abstract

The discovery that X-linked Charcot-Marie-Tooth disease (CMTX) is caused by mutations in connexin32 (Cx32)1 has united the fields of molecular genetics, neurology, and gap junction biology by demonstrating the importance of Cx32 in myelinating Schwann cells. The lack of overt clinical manifestations in other tissues that express Cx32 suggests the existence of compensatory mechanisms elsewhere that are absent in peripheral nerve. Determining the mechanism by which Cx32 mutations cause the phenotype of CMTX will contribute to the understanding of the function of the myelin sheath and elucidate the role of Cx32 in other tissues.