The Question Remains

My son was discovered to be deaf at the young age of 5 weeks. A few months back, genetic testing showed that this was due to a genetic mutation - specifically the gene GJB2, which creates the Connexin 26 protein.

At the time, I had never heard of GJB2, or Connexin. The test results contained a lot of terminology and codes which I still haven't decrypted. The Dr. dealing with us, while friendly and supportive, didn't seem too knowledgeable either. Any question we asked lead to her immediately consulting google.

So this is what I did for the next few days. There was a lot of information out there, but it fell into two categories. The first was mostly articles from scientific journals, unreadable in a similar manner to the genetics results letter I received. The second category was the kind of overly simplistic stuff seen in hospital leaflets. It scratched the surface in terms of an explanation, but left me with more questions than answers. I wanted Goldilocks information.

My big question, and one I couldn't easily find a clear answer to is the following: What role does Connexin play in the hearing process, and how does the GJB2 mutation cause hearing loss?

I could find partial answers to this, but each one lead to more and more questions. So I started digging further, and am now stuck in a rabbit hole of genetics, cell molecular biology, and structural anatomy, none of which I really understand. But I m slowly trying to get to grips with it.

My aim is to update this blog weekly until I fully understand every aspect of the relationship between GJB2, Connexin 26 and deafness. Which will presumably be for a very long time.

My homework for next week:  GJB2 = Gap junction beta 2. So what the feck is a gap junction?

[p.s. if you are in the middle of doing your own research into this I found this link to be a good starting point]