The Connexin-deafness homepage
Connexin 32 and hearing impairment
Connexin 32 mutations were identified as the cause of X-linked
Charcot-Marie-Tooth disease in 1993 (Bergoffen et al.). Charcot Marie Tooth is
a progressive peripheral neurodegenerative disorder that presents with
demyelination of peripheral neurons, leading to weaknesses in the distal
regions of the limbs and to sensory loss. Several mutations in Connexin 32 have
been described since the first implication of the gene in this disorder,
distributed all over the protein sequence.
Some cases of X-linked Charcot-Marie-Tooth disease also have as a symptom the presence of hearing impairment, due to secondary changes in the auditory system. Specific Connexin 32 mutations cause the presence of deafness as an accompanying symptom.
Cx32 is expressed in Schwann cells where it is thought to form "reflexive " intracellular gap junction communication channels between adjacent loops of non-compacted myelin. The loss or disruption of these channels may lead to loss of an important intracellular signaling pathway.
We are still working on this page, and hope it will soon be finished.