Interesting new research on autism and Angelman syndrome

I though this article might be of interest to those on ATS who like to stay updated on autism-related research.

Basically, what the paper shows is that a team has found a specific gene (Ube3A, a ubiquitin [protein degradation mediator]) that may be the underlying cause to two different diseases (Angelman syndrome and some forms of autism) depending on the sort of defect in the gene.

Ube3A is a ubiquitin, a protein responsible for "marking" other proteins for degradation. Specifically, this ubiquitin works on the proteins that create new excitatory neuron synapses in the developing brain of fetuses and infants. The researchers found that when this gene was defective or absent, their mouse models had an marked increase in the number of these synapses formed. This is because Ube3A was unable to degrade it's target (a protein called E5) that has to be "chewed away", so to speak, before a neuronal synapse can form at that site. A lack of these synapses causes a condition called Angelman syndrome.

On the other hand, it has been noted that in some forms of autism, there is a duplication of Ube3A. Obviously, having a duplication of the gene would increase the activity of the protein (since you have two copies for every one copy in a normal person). This causes E5 to be "chewed up" at a higher rate, and more excitatory synapses form, causing abnormal brain function due to an imbalance in inhibitory/excitatory neuron firing.

So, if this gene is one of the culprits behind autism development, it would make perfect sense that you wouldn't see overt signs of autism at birth. Synapses form at an incredibly rapid rate during the first few years of life. If there is a defect in the process that regulates these synapses, clearly problems could arise.

Originally posted by VneZonyDostupa
So, if this gene is one of the culprits behind autism development, it would make perfect sense that you wouldn't see overt signs of autism at birth. Synapses form at an incredibly rapid rate during the first few years of life. If there is a defect in the process that regulates these synapses, clearly problems could arise.

They have found genes for perhaps a couple of forms of autism.. that does not mean it explains away all on the autism spectrum or discount the possibilty of enviromental triggers (or a mixture of both). I am disapointed the article does not really say that given there are hundred of variations of ASD. I've seen this article elsewhere and people have been jumping the gun.

I am very happy they are doing this kind of research.. perhaps they may even find genes that may make childen predisposed to enviromental triggers. I personally believe some up trouble with the blood bain barrier- perhaps a gene is responsible for that as well.

thanks for posting.

Originally posted by riley
They have found genes for perhaps a couple of forms of autism.. that does not mean it explains away all on the autism spectrum or discount the possibilty of enviromental triggers (or a mixture of both).

No one has ever claimed it does. Research hasn't shown any environmental triggers yet, however, so it would be unethical to suggest such a link without evidence. That's why you don't see it mentioned in papers beyond a "still looking into it" sort of reference.

I am disapointed the article does not really say that given there are hundred of variations of ASD.

Why would they mention that fact? This research was an exploration of a specific gene related to Angelman syndrome, and the ASD finding was incidental, as explained in the paper. Also, they do make mention that this gene duplication is only seen in SOME forms of ASD. This is mentioned in the discussion portion, for reference.

I am very happy they are doing this kind of research.. perhaps they may even find genes that may make childen predisposed to enviromental triggers. I personally believe some up trouble with the blood bain barrier- perhaps a gene is responsible for that as well.

Absolutely. It's not outside the bounds of reason that a certain genetic "tic", so to speak, would make someone more sensitive to a given compound. Of course, stopping all vaccinations over a hypothesis is irresponsible, but should such a mutation be found, it would certainly be game-changing.

thanks for posting.

Quite welcome =)

I wonder what factors directly influence the expression of these genes...

Any ideas?

Originally posted by DevolutionEvolvd
I wonder what factors directly influence the expression of these genes...

Any ideas?

Nothing external would affect these specific changes in Ube3A. The researchers showed that it's an intrinsic mutation (a duplication in the case of autism) that occurs prior to birth. That doesn't eliminate the possibility that the mutation could predispose one to certain sensitivities or allergies, but there isn't any evidence that exposure to a toxin or environmental trigger in the mother is what causes the genetic change in the fetus,.

reply to post by VneZonyDostupa


Interesting. Thanks for the reply. What kind of steps can be taken, in the future, to possibly prevent autism? Gene suppression?

reply to post by riley


I really don't think you read what the OP said... he wasnt saying "Oh we found a gene" as if that were all, but the information we glean from understanding what gene is at play also leads us to better understand the development of autism and why we don't see it manifest until later in the development process.


I'd personally like to thank the OP for bringing this to our attention.