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.
Department of Neuroanatomy and Molecular Brain Research, Ruhr University Bochum, University Street 150, Bochum, 44801, Germany. georg.zoidl@rub.de
Georg
G
Zoidl
Rolf
R
Dermietzel
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