Connexin mutations in human disease

The document discussed how mutations in connexin proteins, which form gap junctions for intercellular communication, were linked to various human diseases affecting the ectodermal epithelium, such as hearing loss, neuropathy, hair growth abnormalities, and hyperkeratosis. Specific mutations in connexins like Cx26 and Cx31 were associated with conditions like Charcot–Marie–Tooth disease, non-syndromic hearing loss, Vohwinkel's syndrome, and other skin disorders. These mutations affected epidermal differentiation and sensory epithelia, with studies showing that mutant connexins often led to defective trafficking, impaired gap junction function, and increased cell death. The research highlighted the complex roles of connexins in different tissues and their potential impact on understanding and modeling human diseases.