New studies find Autism linked to genes that wire the brain

Two large studies about Autism were released this week in Nature magazine, and I wanted to make sure you guys saw this information! Time magazine did a wonderful job covering the new discoveries, plus linking parents to more information about Autism.

Here is part of what Time reported and here is the link to the full story!

“The largest genetic study of autism ever attempted – involving more than 3,000 participants from AGRE, 1,453 cases from other sources and over 7,000 additional control subjects – identified genetic variations in a region of chromosome 5 that appears to play a pivotal role in about 15% of cases of autism. What makes this region particularly fascinating is that it seems to regulate gene-coding for proteins that are essential to forming connections in the brain. This fits well with earlier research – including imaging and autopsy studies – that suggest autism is essentially a disorder of poor connections in the brain. . .”

“A second paper in Nature, published by the same team at CHOP along with scientists at numerous other institutions, looked at a specific kind of genetic change: deletions and duplications of genes. While there are many such changes associated with autism, most are very rare. This paper, however, found an intriguing pattern among two genes already linked to autism and nine newly identified targets. Most play a role in two key systems in the brain. One is the same brain-wiring system – neural cell adhesion – implicated in the first paper. The second is a set of housekeeping proteins – the ubiquitin system – that whisk away old brain connections and set the stage for new ones …”

“We are starting to get convergence around genes that affect how synapses and connections in the brain are made and maintained … particularly in the frontal lobe” says Geraldine Dawson, chief science officer for Autism Speaks, an advocacy group that, along with the National Institutes of Health, funds the AGRE database. The hope, says Dawson, a co-author of the two Nature papers, is that researchers could ultimately develop drugs that affect the biochemical pathways associated with these genes.

I have added a new Autism category to our links on the right-hand side and will continue to add information about Autism research as it appears in the news.

9 comments Add your comment


May 1st, 2009
1:25 am

Genetics is so amazing — I love how pieces of the human puzzle keep falling into place.

I remember, as a pysch major in college, helping out in a clinic with autistic kids as part of a paper I was writing on autism. A LOT of the research then tended to place the blame for autism on poor maternal bonds with the child, and even then, I always wondered if it was a “chicken or the egg” problem, in that the kid was autistic, which in turn led to poor maternal bonding . . . either way, it leaves the mother feeling pretty rotten, as if they weren’t feeling that way to begin with. Subsequent research, of course, has pretty much eliminated that as a cause, but there was a whole generation of mothers who grew up with the guilt that something wrong with THEM caused this in their chid.

Anway, I’ve always been interested in the research on autism, so thanks for including this!


May 1st, 2009
7:22 am

I think this is a great topic. It goes to show that vaccines are NOT the cause of autism. It just happens to be coincidence that these changes are usually noticed at about the same time that the vaccines are given.

Theresa Walsh Giarrusso

May 1st, 2009
8:14 am

Michelle — There was one line in the article though that I think doesn’t quite clear the vaccines or any other odd external influence — Here’s the quote that caught my eye and still makes me concerned —

A malfunction affecting one of these genes is not, in itself, enough to cause autism, the Icelandic researcher is quick to point out. It would take a combination of several genetic flaws and perhaps environmental factors as well for autism to emerge. “This gene is a key driver in causing autism in about 15% of cases,” Harkonarson asserts.

and Perhaps Environmental factors as well for autism to emerge — that still makes me nervous as a mother.

V for Vendetta

May 1st, 2009
11:08 am

So eating right and avoiding vaccines won’t magically “cure” autism? Wow, I’m SO shocked. Theresa, “environmental factors” means just that. Unless people want to shield their children from the environment, I don’t think that’s a valid reason to point a finger at vaccines. It’s the same sort of argument that people use against seatbelt usage: There is a microscopic chance that a seatbelt could decapitate you or trap you in a vehicle. Does this present valid evidence against seatbelt usage? Absolutely not. Seatbelts save lives; we all know that. Well, so do vaccines.


May 1st, 2009
11:21 am

Autism is NOT caused by vaccines! Ugh, how many times does the medical research community need to say it? And then idiots like Jenny McCarthy go around spouting lies in order to make themselves feel better about blaming something/someone else for their child’s disorder. And for the love why don’t people put the child before the disorder? You should never say “autistic child.” You should ALWAYS say “child with autism.” These children will not be defined by their affliction.


May 1st, 2009
1:10 pm

Autism is a fascinating and frustrating disorder. There are success stories out there, but the keys to one child’s improvement do not seem to apply to other children. It is such a trial and error search for the right therapies and interventions -often with no results despite years of hard work.


May 3rd, 2009
5:21 pm

No study has ever 100% conclusively shown vaccines don’t cause autism, but that MERCURY may not cause autism… NO study has ever tested the combination of vaccines, the amount of Aluminum in them, nor how different children react to 20+ vaccines given within the first 1 1/2 years of their lives (which has only been done for the past 10-15 years!). I think we all can agree that vaccines save lives, but perhaps the rigid schedule that has been implemented in the past several years does not. To put a blanket statement that vaccines don’t cause autism though is just unfounded… as is saying that they do. Just because one child is not affected by such things does not mean another won’t be.
There are many factors that may be included in the reason for increases in the past 20 years of autism rates, like formula, medications during pregnancy and labor, chemicals in our foods and other products we use that change our hormonal structure… the list goes on and on. All of these things affect a developing fetus (brain and other systems). Pre-pregnancy planning could go a long way in helping minimize risks for many problems during pregnancy and beyond.


May 4th, 2009
4:11 pm


You are playing in to the fear mongering. People are just looking for something to blame other than the genetic makeup of their own body. The CDC says vaccines don’t cause autism; as well as countless other studies. The one thing that could possibly cause autism is the one thing you fail to mention in your post…GENETICS!!!!!!!

Pre-pregnancy planning offers NOTHING towards preventing autism.


May 5th, 2009
5:55 pm

I’m sorry, but the CDC says lots of things that don’t coincide with data from studies. I’m not playing into anything – my children are vaccinated – just not to the schedule that they have never proven to be safe or necessary. Our genetics are affected by things that happen to us (Take MS for example), so to say that what we put into our bodies or that of our children does NOTHING to us has never been proven, but much to the contrary has… what would be the reason for the autism rates going up in correlation to the updated vaccination schedule in the 80’s? Why do European countries that give LESS vaccinations have lower autism and ADD rates? Are they genetically better off than we are? lol