Jun 9, 2011 15:01 GMT  ·  By
Autism spectrum disorders might be caused by the accumulation of hundreds of small genetic variants
   Autism spectrum disorders might be caused by the accumulation of hundreds of small genetic variants

According to the conclusions of a new scientific study on the issue, it would appear that hundreds of very small genetic variants may contribute to underlying disorders belonging to the autism spectrum.

All on their own, none of these variation would probably cause any ill side-effects, but their effect increases the more they come together, researchers at the Yale University write in the new paper.

This collaborative research was conducted in order to verify an idea about autism. Some researchers believed that the condition is not caused by one or two massive mutations, but by many smaller ones.

Apparently, they were correct, the study team now says. Each of the variations has been found to be responsible for small percentage of autism spectrum disorder cases, it was also revealed.

More than 1,000 families were studied for this work, but the experts imposed some conditions meant to tease out those who could not participate. All the families had one child with autism, another that was healthy, and also healthy parents. No exceptions were allowed.

During the research, the children who had autism were compared to their siblings from a genetic point of view, as experts tried to figure out the class of genetic changes they should be on the lookout for.

Details of the new conclusions were published in the latest issue of the renowned journal Neuron.

“Thanks to an ambitious collaboration among a large group of autism researchers from around the country, supported by the Simons Foundation, we were able to focus on an ideal study population,” explains scientist Matthew State, MD, PhD.

“It made all the difference in our ability to identify several regions of the genome clearly contributing to autism,” he adds. State is the co-director of the Yale University's Program on Neurogenetics.

“In autism, there is an increase in the chromosomal material, an extra copy of this region, and in Williams syndrome, there’s a loss of that same material,” he adds. Children with Williams Syndrome have unnatural talent for music, and are extremely sociable.

“What makes this observation particularly interesting is that Williams syndrome is known for a personality type that is highly empathetic, social, and sensitive to the emotional state of others,” State says, quoted by PsychCentral.

“Individuals with autism often have difficulties in the opposite direction. This suggests that there is an important key in that region to understanding the nature of the social brain,” he concludes.