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Big study identifies new genes that may be involved in autism

June 10, 2010 |  6:50 pm

A large international consortium of authors (including some at UCLA) have identified new genes that appear to be involved in autism somehow. The findings appear in the journal Nature.

The researchers in this big effort examined the DNA of 996 children with autism spectrum disorder plus their parents, and compared what they found with the DNA of 1,287 matched controls (who didn't have autism but were of similar ancestry, etc). They looked for differences between the two groups in places in the genome where chunks of DNA are repeated or deleted. 

Such repeats or deletions were found 20% more often in the autism group -- some of them situated at genes that, therefore, may be involved in the condition. The implicated genes appear to be involved in functions such as nerve connections and nerve growth, and others had been implicated in learning disabilities.

In some cases, the parents also had these little duplications or deletions, implying inheritance. In other cases, the kids had them but the parents did not, implying, perhaps, that they had developed in sperm or eggs that gave rise to the children.

That genes are involved in autism is not a surprise: The condition is known to run in families, and twin studies indicate inheritance. And previous studies have identified some genes. But this was the biggest autism-DNA study yet, and it adds to the list of genes that could be involved in autism.

The study doesn't produce any kind of diagnostic test, since the genes identified don't definitively predict autism, but just indicate heightened risk (some of the researchers are now working on a project to see whether the genes can help in diagnosis of new cases of autism). And they also don't explain more than a fraction of autism cases.   

Here's the Nature paper.

You can also read several news releases explaining the study in simpler terms -- for example, one from UCLA and one from Oxford University.

Here's a fact sheet about the global Autism Genome Project.

And here's a write-up at Scientific American.

--Rosie Mestel

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Comments (4)

While undoubtedly certain alleles are associated with propensity to develop autism, if one accepts the CDCs MMWR figures, autism has increased some ten fold within the course of a generation. No scientist would ever say this could be caused by genetics. That leaves environmental and infectious causes. Of these, there are a significant minority of parents of patients who are stating that vaccine inoculation was the precipitating event in their child's subsequent development of autism. Will we listen and pursue the data provided by concerned parents or dismiss them as 21st century "refrigerator mothers?"

Great - the biggest gene study ever may explain a fraction of autism cases and implicates myriad genes. Some people who have the genetic defects are not austistic, and may people who are autistic do not have them. So glad we're on the right track with study that cost millions or maybe billions of our tax dollars.

"But genes can't tell the whole story said Dr. Derrick MacFabe, director of the Kilee Patchell-Evans Autism Research Group at the University of Western Ontario."

"We have to account for the relationship between environmental factors as well as genetics. This is not an either/ or."

"This same study also found overlap between the autism susceptibility genes and those believed to be involved in mental health disorders and developmental disabilities such as attention deficit hyperactivity disorder, suggesting a possible link."

NON Inherited genetic source for a minority but growing percentage of children. This is already explained in a recent book based on Systems theory rather than statistical study. The book is called Xzenobia. At the end it also predicts that autism will rise slowly but exponentially as a result which is what we are seeing.

The book is also elegant and positive thinking as well as practical. Written for regular fathers to encourage them to act early but totally brilliant and touches on a lot of subjects germane to learning disabilities which is not commonly found else ware.


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