Sunday, November 23, 2014

Mutant Gene that Causes Deafness Discovered


       Researchers have recently discovered a mutant gene called Tmie that can cause deafness from birth. Scientist were then able to reintroduce the gene in mice and restore hearing, instilling new confidence that with the identification of this gene, gene therapy can be used to restore hearing in humans.

      The scientists identified the Tmie gene by studying the process of hearing, which involves mechanotransduction (the process of converting mechanical force into electrical activity). Researchers specifically looked for how signals were passed along tip link proteins and to the ion channels (essentially electric signals). They eventually found the Tmie gene, whose protein TMIE interacts with tip link proteins a connects the tip links to a piece of machinery near the ion channel.

    Researchers then bred a population of mice that lacked the gene. They studied these mice and found that without the Tmie gene, no electrical signal could be invoked in the hair cells after stimulation, meaning the mechanotransduction current is totally gone and the mice were deaf. In a second part of the experiment, researchers reintroduced Tmie into mice that had been deaf since birth and found that hearing was restored. This new breakthrough means gene therapy may be able to be used to restore hearing in humans and even possibly knock out deafness entirely in the future. 


1 comment:

  1. This is a great discovery that could be very valuable to the medical field. Hearing is such a major part of our everyday life that lacking the ability to hear comes with many struggles. If this gene found in mice works the same in humans, and this gene therapy is also applicable and effective with humans, this would be a monumental discovery in terms of gene therapy. Being able to restore hearing in those that do not have the ability would be a great advancement in gene therapy.

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