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Gap junctions in inherited human disease

  • Signaling and Cell Physiology
  • Published:
Pflügers Archiv - European Journal of Physiology Aims and scope Submit manuscript

Abstract

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.

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We thank Ms. Sarah Hoffmann for the critical reading of the manuscript and Ms. Helga Schulze for the artwork.

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    Georg Zoidl & Rolf Dermietzel

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Zoidl, G., Dermietzel, R. Gap junctions in inherited human disease. Pflugers Arch - Eur J Physiol 460, 451–466 (2010). https://doi.org/10.1007/s00424-010-0789-1

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