Gap Junction Channels

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This research involved the communication of cells, specifically through gap junctions, and how interruptions or deficiencies caused by genetic mutations of the gap junction regulators can lead to diseases ranging from heart disease to deafness. By obtaining a thorough understanding of how these gap junction are built, how the formation is regulated, how mutations in genes affect gap junction construction and what other jobs the constituents of gap junction production have beyond their primary role, may lead to developing therapies targeting the defective junctions and their constituents in order to restore cell communication without causing serious unwanted side effects.

Laird, Lampe and Johnson studied the specifics of gap junction construction, …show more content…
These pores are that which puts the cytoplasm of two neighboring cells in direct communication with each other. This allows various molecules, ions and electrical signals to pass through a controlled gate between the cells. One single pore constitutes a single gap junction channel, which is one of thousands that coalesce to create a gap …show more content…
Mutations in different connexins result in different conditions. Researchers also showed that mutated connexins do not equally affect all organs or tissues. That is, a mutant connexin might impair tissue in one organ but not another. One thought is that a mutated connexin in an otherwise unaffected tissue or organ may have other healthy connexins capable of compensating for the defective connexin. Further, the mutated connexins may have role dependent associated affects on individual tissues or organs. Many of the genetic mutations in Cx43 allow the connexin to reach the cell membrane but render it ineffective in forming gap junctions; that is, dyes are not observed flowing from one cell to the next with this form of mutation. Other, more disabling, genetic mutations in Cx43 hinder the connexin from ever reaching the cell membrane. Both forms of mutations can cause the same connexin-based disorder; however, people with the non-membrane reaching mutations are associated with more severe conditions. This suggests that connexins have more of a role than assembling gap junctions. It is thought that some of these connexins forming hemichannels may remain uncoupled and serve a different job at the cells membrane, possibly taking up ions, molecules or signals from its environment. Further research into these uncoupled
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