Gap Junctions

The first thing to figure out is what healthy Cx26 actually does. Connexin 26 is a type of long molecule called a protein. It has another name: Gap Junction Beta 2. The mutation that causes my son's deafness is on a part of the DNA that makes this protein, which is why it is called the GJB2 gene.

So what is a gap junction?

Cells are basically bags of stuff - DNA, RNA, mitochondria, all sorts of sciency sounding stuff inside that make life as we know it happen. They are kind of like tea bags - water can pass through the outside of the cell (the cell membrane), and also oxygen and CO2, but not much else.

Stuff needs to get in and out of cells for life to happen. They need chemicals to do what they need to do - otherwise why would we eat? They also need to communicate to each other, and this is typically done through electrical signals; by passing ions (electrically charged atoms or molecules) between each other.

This is where gap junctions come in. Gap junctions are like tunnels connecting cells, allowing materials to pass between them.

Here's a picture robbed straight from Wikipedia:

 The blue plates are the edge of two cells, and the gap junctions are the yellow structures linking them together. From the top down, they look like a flower, with 6 petals. And each one of those petals is a Connexin protein.

A bit more about how the gap junctions work. There are many types of Connexin proteins, 21 in humans, and the gap junction can be made up of all the same type or different ones.

Half of a gap junction is called a connexon - note the second 'o'. When two cells are in contact, a connexon forms at the edge of each cell, and they connect to form a junction. The two connexons linking up don't have to be the same.

So from different combinations of Connexin proteins and connexons you can get different junctions, and these will let different materials through. From what I've read, the gap junctions made with Connexin 26 transport Potassium ions as well as some (unspecified) small molecules. This would suggest to me that these gap junctions are mostly used to send electrical signals between cells.

This fits in with my basic understanding of hearing: hair cells being wiggled by sound waves and sending a signal via nerve cells to the brain. If Connexin 26 is critical in sending these electrical signals, than I can imagine how not having it might cause deafness. But GJB2 mutations can cause other problems, particularly relating to skin growth, so maybe I'm off the mark.

One thing I would like to find out; how come GJB2 mutations don't necessarily cause profound deafness? They must be fairly critical for hearing, so why is there any hearing at all if they are not around? I suppose I can't answer that until I know their role.