Connexin Mutations in Human Disease

The document discussed the role of connexin mutations in various human diseases, particularly focusing on their impact on the ectodermal epithelium, which includes conditions like hearing loss, neuropathy, hair growth abnormalities, and hyperkeratosis. It highlighted that different mutations within the same connexin protein could lead to distinct phenotypes, affecting epidermal differentiation and sensory epithelia. Studies showed that connexin 32 mutations were linked to Charcot–Marie–Tooth disease, while connexin 26 mutations were associated with non-syndromic hearing loss and Vohwinkel's syndrome. Connexin 31 mutations were found to cause defective trafficking and cell death in keratinocytes, contributing to skin diseases. The research underscored the importance of connexins in cellular communication and their potential role in paracrine signaling, with implications for understanding complex epithelial and non-epithelial tissues.