Gap junctions in inherited human disease.
Gap junctions (GJ) provide direct intercellular communication. The structures underlying these cell junctions are membrane-associated channels composed of six integral membrane connexin (Cx) proteins, which can form communicating channels connecting the cytoplasms of adjacent cells. This provides coupled cells with a direct pathway for sharing ions, nutrients, or small metabolites to establish electrical coupling or balancing metabolites in various tissues. Genetic approaches have uncovered a still growing number of mutations in Cxs related to human diseases including deafness, skin disease, peripheral and central neuropathies, cataracts, or cardiovascular dysfunctions. The discovery of a growing number of inherited human disorders provides an unequivocal demonstration that gap junctional communication is crucial for diverse physiological processes.
Zoidl
Georg
G
Department of Neuroanatomy and Molecular Brain Research, Ruhr University Bochum, University Street 150, Bochum, 44801, Germany. georg.zoidl@rub.de
Dermietzel
Rolf
R
D000818:Animals; D002450:Cell Communication / Q000502:physiology; D017630:Connexins / Q000235:genetics / Q000502:physiology*; D017629:Gap Junctions / Q000235:genetics / Q000502:physiology; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D007759:Labyrinth Diseases / Q000235:genetics; D023421:Models, Animal; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000235:genetics; D012871:Skin Diseases / Q000235:genetics
D017630:Connexins