Role of Connexins in Hereditary Diseases

Dear Colleagues,

Connexins are a family of transmembrane proteins that form cell–cell channels (gap junctions), enabling the direct passage of ions and small signaling molecules between coupled cells. Connexins have  essential roles in cell differentiation, proliferation, and homeostasis.  In addition to gap junctions, connexins can also form hemi-channels, and recent evidence further suggests involvement in gap junction-independent cellular activities. 

Twenty-two human connexins have been identified, each differing in tissue distribution, expression, and physiological properties.  Mutations in connexins are associated with over 30 inherited genetic diseases, including congenital cataracts, congenital sensorineural hearing loss, non-syndromic deafness, X-linked Charcot–Marie–Tooth disease, hypomyelinating leukodystrophy, Pelizeaus–Merzbacher-like disease, and skin disorders. Within the field of gap junctions, advanced techniques utilizing genetically modified mouse models, optogenetics, exogenous gene delivery systems, and cryo-EM are providing insights into the roles of connexins in normal physiology and diseases as well as potential therapeutics directed at inherited connexin disorders. 

This Special Issue of Biomolecules welcomes the submission of both original research articles and reviews that focus on understanding the mechanisms underlying the role of connexins in inherited genetic diseases.

Dr. Mona M. Freidin
Guest Editor

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