Wednesday, May 25, 2016

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 something can go wrong with the ways the brain wires itself, from synapses not forming correctly to too many potential synapses (which can interfere with each other and thus result in the synapses not forming correctly).

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.

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