Scientists find new links between autism and genetic mutations

istockphoto

(CBS News) Autism is still a mystery to many, but researchers have uncovered three gene mutations that may be linked to the disorder.

Pictures: Autism-spectrum disorder: 24 warning signs
Complete Coverage: Latest developments in autism

In three separate studies published April 4 in Nature, researchers examined children with sporadic autism, meaning the disorder does not run in their families. The studies found that mutations in the parts of genes that code for proteins played a significant role in the development of autism.

Studies have suggested a connection between genes and autism, HealthPop previously reported. These new studies merely untangle the mystery a little further.

The first of the Nature studies looked at 677 individuals from 209 families, each with one child with autism. The study found 126 de novo mutations - coming from neither parent - that were predicted to contribute to autism. The study also found that these mutations occurred four times more frequently in sperm than in egg cells. And the older the father, the more likely his sperm was to contain these mutations.

A second study, led by Yale University researchers, found that 14 percent of subjects with autism had genetic mutations at a rate of five times the normal rate. And, 39 percent of these mutations were found to affect a key pathway for communications in the brain.

The third study, led by Harvard Medical School and MIT's Broad Institute, looked at rates of de novo mutations in autism spectrum disorders. The study found that chance mutations play a modest role in the development of autism, providing small but important evidence of autism risk factors in those mutations.

Do the studies line up? Mutations in two genes - called CHD8 and KATNAl2 - may potentially be autism risk factors because they were found in more than one patient. "Almost never did we see lightning strike the same place twice," Dr. Evan Eichler, one study author, told HealthDay.

The three studies combined offer solid clues toward solving the autism puzzle.

"We now have a path forward to capture a great part of the genetic variability in autism - even to the point of being able to predict how many mutations in coding regions of a gene would be needed to account for illness," Dr. Thomas Lehner, chief of the NIMH Genomics Research Branch, which funded the Daly study and helped to create the Autism Sequencing Consortium, said in a news release. "These studies begin to tell a more comprehensive story about the molecular underpinnings of autism that integrates previously disparate pieces of evidence."

25 Photos

Autism-spectrum disorders: 24 warning signs

[kimbakat--2008]

Is that why girls who received the HPV vaccine at age 12 or 13 suddenly got sick permanently with brain issues and other problems? You can see all their personal testimony on youtube.

No..I don't think vaccines have any link to any issues. Why is autism so prevalent suddenly a few decades after vaccines were invented. Why now?

Somehow blaming the genes of the parents is a total cop out. I mean really...did men's sperm suddenly get screwed up in the past few decades. I'm sorry but they are going to have to find a better reason as to why teh spike in autism in the last 20 years. It;s Like calling Telomeres "junk dna". Scientists considered it junk because we didn't know what it was.

We find NOW that we were told to remove fats 25 years ago to slow cholesterol....and it turns out that sugar has been the height of many cholesterol diseases based in spiked insulin levels...so soda increased sugar and salt in 30 years into their recipes to addict kids! Maybe autism is too much sugar in the gene pool!

[credibility2]

Having studied advanced genetics in my final year of college, I've often believed that genetic mutations and the age of the parents had a plausible link to autism...the new studies give credence to that and shouldn't be dismissed...considering the delayed age for procreating nowadays and the incidence among these individuals of having children born with autism, is logical...I hope more research and studies will conclusively determine the specifics of this debilitating condition and humans can plan accordingly with their wanting or not wanting to have kids...

[texasmommers]

To raise awareness of autism, use a blue porchlight for the month of April. My friend, who has children on the autism spectrum told me about this and I purchased one that day at Home Depot. My child,now 23 and doing well, was correctly diagnosed (after 9 doctors!)

[grant_x]

Great work. I'll take any piece of evidence to show parents that vaccines are NOT the problem.

I'll just never understand the logic behind risking your child's death to possibly avoid autism...

[victorpavlovic]

Grant, what is it that you don't understand? is it the fact that the U.S. is the most vaccinated nation in the world yet we have the sickest children, 1 in 5 are now afflicted with some sort of neurological disorder, or is it the fact that all the studies exonerating vaccines from the autism link were funded or performed by Big Pharma, when all non Pharma funded studies show the opposite, or is it the fact that the NVICP aka vaccine court has paid out billions for vaccine related injuries and death, or could it be that the vaccines that contain mercury are a neurotoxin, and there still are some with this substance in them, and the vaccines that don't have it in them have added aluminum a known neurotoxin, could it be that you are right Grant and that you will never understand unless you research the subject yourself just as I have for the past twenty years.You see Grant the parents that refuse vaccines are the most educated, and that should tell you something in itself!