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Related Concept Videos

Gap Junctions01:37

Gap Junctions

Multicellular organisms employ a variety of ways for cells to communicate with each other. Gap junctions are specialized proteins that form pores between neighboring cells in animals, connecting the cytoplasm between the two, and allowing for the exchange of molecules and ions. They are found in a wide range of invertebrate and vertebrate species, mediate numerous functions including cell differentiation and development, and are associated with numerous human diseases, including cardiac and...
Gap Junctions01:27

Gap Junctions

The cytoplasm of adjacent animal cells can exchange small molecules, ions, and secondary messengers via the communication channels which form the gap junctions. These junctions comprise a few hundred to thousands of molecular channels, each made of two halves, called the connexon hemichannel. A connexon is a hexamer of six transmembrane connexin proteins, which assemble radially, thus forming a pore or channel in the center. One connexon hemichannel docks with a corresponding connexon on the...
Contact-dependent Signaling01:19

Contact-dependent Signaling

Contact-dependent signaling, as the name suggests, requires that communicating cells be in direct contact with each other. This is achieved either through receptor-ligand interactions or by specialized cytoplasmic channels that allow the flow of small molecules between cells. In animal cells, channels called gap junctions facilitate contact-dependent signaling in certain tissues, whereas, plasmodesmata perform a similar function in plants.
Gap Junctions
In animal cells, gap junctions are formed...
Sensory Functions of the Skin01:16

Sensory Functions of the Skin

The skin is the largest organ of the human body and plays a crucial role in our sensory perception. It contains a vast network of sensory receptors that contribute to the skin's protective function by perceiving physical, biological, and environmental cues and generating relevant responses.
There are two main categories of receptors on the skin: capsulated and non-capsulated. The non-capsulated ones are mainly the pain receptors. The capsulated ones can be further categorized based on the...
Hair Cells01:22

Hair Cells

Hair cells are the sensory receptors of the auditory system—they transduce mechanical sound waves into electrical energy that the nervous system can understand. Hair cells are located in the organ of Corti within the cochlea of the inner ear, between the basilar and tectorial membranes. The actual sensory receptors are called inner hair cells. The outer hair cells serve other functions, such as sound amplification in the cochlea, and are not discussed in detail here.
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Mechanically-gated ion channels are proteins found in eukaryotic and prokaryotic cell membranes that open in response to mechanical stress. Tension, compression, swelling, and shear stress can alter the conformation of the protein, opening a transmembrane channel that allows the passage of ions for signal transmission. In eukaryotes, mechanically-gated channels are distributed in several regions like the neurons, lungs, skin, bladder, and heart, where they play critical roles in numerous...

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Mechanical Stimulation-induced Calcium Wave Propagation in Cell Monolayers: The Example of Bovine Corneal Endothelial Cells
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Key functions for gap junctions in skin and hearing.

Claire A Scott1, David P Kelsell

  • 1Centre for Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK.

The Biochemical Journal
|August 13, 2011
PubMed
Summary

Mutations in beta-connexin (Cx) genes cause skin diseases and deafness by affecting gap junction function. These connexin proteins also have non-gap junction roles, offering insights into disease mechanisms.

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Area of Science:

  • Molecular biology
  • Genetics
  • Cell biology

Background:

  • Connexin (Cx) proteins form gap junctions, essential for cell-to-cell communication.
  • Mutations in Cx genes are associated with various human genetic disorders.
  • Beta-connexin (β-Cx) genes encode Cx26, Cx30, Cx30.3, and Cx31, implicated in skin and hearing conditions.

Purpose of the Study:

  • To review mutations in β-Cx genes.
  • To discuss the link between these mutations and human diseases, specifically skin disorders and deafness.
  • To explore functional studies of Cx proteins, including their roles in disease and non-gap junction functions.

Main Methods:

  • Literature review of studies on connexin mutations.
  • Analysis of functional studies investigating Cx protein behavior.
  • Examination of genetic data linking Cx gene mutations to phenotypes.

Main Results:

  • Mutations in Cx26, Cx30, Cx30.3, and Cx31 genes are directly linked to the development of skin diseases and hereditary deafness.
  • Functional studies reveal how these Cx mutations disrupt gap junction intercellular communication.
  • Evidence suggests Cx proteins possess non-gap junctional functions relevant to disease pathogenesis.

Conclusions:

  • Mutations in specific beta-connexin genes are a significant cause of inherited skin and hearing disorders.
  • Understanding connexin protein function, both in gap junctions and beyond, is crucial for elucidating disease mechanisms.
  • Further research into connexin biology may reveal novel therapeutic targets for related human conditions.