Wednesday, 18 December 2013

An Acquired Channelopathy


For the psychologists among you, and self-taught ABA parents like me, you will know what is a meant by an "acquired behaviour".  So once a child has learnt a behaviour, that resulted in something the child found rewarding, the behaviour will repeat.

Once learnt, it is difficult to get rid of unwanted acquired behaviours.  An example in autism would be self-injury.

In an earlier post, we learnt that children at risk of developing asthma, if identified and treated with a mast cell stabilizer, could be prevented from developing asthma.  Once you have had one asthma attack, more will follow.

Today, I learnt that you can acquire a channelopathy, that is to say an ion-channel disease that is normally caused by your genes.

"We do know that in some forms of epilepsy, once someone has a seizure they tend to have more. Our findings from this study suggest that something about the brain changes that can lead to this increased tendency to have a seizure. Our study shows that an important change occurs in calcium channels that help to transmit this abnormal activity throughout the brain."
This means, at least in some types of epilepsy, the first seizure permanently changes (damages) the brain.  Thereafter, the affected ion channels function as if that person had a gene mutation. 

This is important for the study of autism because we know that there are ion-channel abnormalities.  If you could identify these channelopathies, that would be the first step towards treating them, and reversing the associated behaviours.

If these channelopathies were not predetermined by genetics, rather some were acquired, that would be very important.  Then you could look at how, when and why they were acquired.

It might be that the channelopathies caused by rare inborn genetic mutations associated with conditions like Timothy Syndrome, are not so rare after all.  It is just that the channel mutated without the "faulty" gene.  So genetic testing will not identify it.

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