Shank Genes and Various Autisms

MIT reports they have discovered the role of a gene linked to autism. The Shank gene is involved in the maturation of synapses, and mutations in one of the Shank genes (there are three in humans) accounts for 0.5% of all known cases of autism–the largest known genetic cause. In their research, they have also found that Shank proteins are involved with another protein whose gene has also been linked to autism.

There are no doubt a large number of ways the brain can wire itself, from synapses not forming correctly to more synapses than usual (which can interfere with each other and thus result in the synapses not forming correctly), more or fewer dendritic spines, etc.

I am willing to bet that we will find a variety of autisms caused by certain families of relations. The autism caused by mutations that affect the Shank-Wnt interactions are likely to be quite different from those caused by imbalances in neurotransmitters that likely cause intense world autism. In each case, a variety of mutations can lead us down the same pathways. In the Shank-Wnt interactions, we can have mutations in any of the Shank genes or in the Wnt gene and get the same outcome. In intense world autism, mutations that cause overproduction of glutamate, the underproduction of glutamine, affect the production of serotonin, or affect the binding of vitamin D so the body can use serotonin, or affect the production or absorption of vitamin D can all create the same or similar conditions. Various causes can result in the same effect.

On this blog I mostly focus on what appear to be the causes of my and my son’s autism, but of course any of the causes of any of the autisms are worth looking into and understanding. But of course I say that as an information junky–which is practically the same thing as saying, as someone with autism.

2 thoughts on “Shank Genes and Various Autisms

  1. Have you done a 23andMe test? They actually give you raw data so you can look at more genes than they report out to you. They only test for common variants but it would definitely be interesting to see if you or your son have any mutations in the genes you bring up. I’ve been trying it, but haven’t found anything yet as to what caused my autism. Probably something spontaneous considering my parents and siblings are all NT.

    Liked by 1 person

    1. I haven’t taken any genetic tests. I have a suspicion that mine is related to the glutamine-glutamate-GABA cycle simply because I also have gut problems that seem to get fixed when I take glutamine. It’s hard to say what gene in that cycle might be involved, or if it’s a receptor problem, etc.

      Perhaps one of these days I’ll give them a try and see what comes up. Thanks for the suggestion!


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