Monday, December 1, 2014

Mutant gene discovered that can cause deafness



          The Scripps Research Institute discovered that one specific gene is responsible for deafness, and is essential to our hearing. Our ears convert the mechanical sound waves into electric signals, so our brain can process it. When the sound wave enters the ear the uneven ends, or the stereocilia, of the inner ear's hair cells are pushed back. This movement causes tension in the strings of the proteins connecting the stereocilia, which sends signals to the brain through ion channels that run through the tips of the hair cell bundles (medicalnewstoday.com). This process is called mechanotransduction, which still poses many questions to researchers. They still were not sure how the signals were passed along the tip links to the ion channels.  To track this mystery, they did tests with thousands of different genes to see which gene affected mechanotransduction. After six months of research, they finally found a gene with the protein TMIE, which interacts with the tip links and connects them to the ion channel. Researchers were already aware that tmie can cause deafness, but they weren't sure how. After doing this research, they did a study in which they bred mice that lacked the gene tmie, and these mice were completely deaf. In their second experiment, they reintroduced tmie in the mice that have been bred deaf since birth. They found that the electrical signals were restored, which means the mice were able to hear again. In my opinion, the fact that they were able to track deafness to a specific gene is amazing to me. Hopefully, with being able to restore the hearing in mice, they can come up with ways to restore hearing in humans who have this specific gene mutation.


Original article: http://www.medicalnewstoday.com/releases/285938.php
Related article: http://www.medicalnewstoday.com/articles/249285.php

1 comment:

  1. I really like the picture of the baby. The article is very interesting, I thought there would be more genes related to deafness.

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