Gap junctions in inherited human disease

Pflugers Arch. 2010 Jul;460(2):451-66. doi: 10.1007/s00424-010-0789-1. Epub 2010 Feb 7.

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.

Publication types

  • Review

MeSH terms

  • Animals
  • Cell Communication / physiology
  • Connexins / genetics
  • Connexins / physiology*
  • Gap Junctions / genetics
  • Gap Junctions / physiology
  • Genetic Diseases, Inborn / genetics*
  • Humans
  • Labyrinth Diseases / genetics
  • Models, Animal
  • Pelizaeus-Merzbacher Disease / genetics
  • Peripheral Nervous System Diseases / genetics
  • Skin Diseases / genetics

Substances

  • Connexins