News / Health

Researchers Discover New Autism Genes

A large international team of scientists has discovered rare genetic changes that predispose some people to autism. The complex neurological disorder affects about one percent of children. It impairs their ability to communicate and develop social relationships and, in many cases, causes behavioral difficulties.

The study identifies a number of genetic mutations, called copy-number variants, in the genomes of children diagnosed with autism.   

Copy-number variants are segments of DNA that have been duplicated or deleted in the genes of children with autism.  Investigators say some of the genetic abnormalities appear to be inherited while others are unique to the autistic children.

In the study, researchers from eleven countries compared the genomes of nearly 1,000 autistic children to 1,300 children without the condition, searching for the rare variants, some of which had been previously implicated in connection with autism. They found these mutations occur 20 percent more often in children with the neurological disorder.

Andy Shih, with the organization Autism Speaks, likens the latest discoveries to pieces of a jigsaw puzzle: "With these findings you are starting to find some of the edge pieces. So, that would provide you with some sort of a framework for looking at how these genes work in autism and leading to the clinical features and how it might work in collaboration with the environment that can lead to some of the autism that we see around us," he said.

Investigators say the copy-number variants in the autistic children disrupt normal functioning in a number of areas, including pathways associated with synapses, the structure between brain cells that allows chemicals to pass electrical and chemical signals to other neurons.

They also found genetic mutations involved in the reproduction and signaling of cells.

Stanley Nelson is a professor of human genetics at the University of California in Los Angeles and co-author of the study.  

He says while the mutations make individuals more susceptible to autism, the genetic abnormalities do not automatically mean someone will have the disorder. "It's probably not a hundred percent and we just haven't observed it enough yet.  So one of the challenges now is to observe these types of mutations across larger sample sets such that you could determine what is the real risk if you inherit this sort of variant or what's the risk if you have a mutation that your parents didn't have," he said.

Autism is what is known as a spectrum disorder, meaning that people could be only mildly affected, a condition known as Asperger's syndrome, while others with autism are profoundly disabled.

Nelson says his team did not find an association between the number of genetic insertions and deletions and the severity of autism.

To pinpoint the causes of the disorder, Nelson says scientists need to conduct a much larger study decoding the genes that have been implicated in this research. "Each child who's affected has some genetic information in their genome that we would like to learn from. And that's the quickest route to try and dissolve [solve] the riddle that is autism," he said.

An article describing genetic changes in children diagnosed with autism is published this week in the journal Nature.

You May Like

Video Russia’s Syrian Escalation Tests Obama’s Crisis Response

Critics once again question whether president has been slow to act on Syrian conflict, thus creating opening for powers like Russia More

Ancient African DNA Shows Mass Migration Back Into Africa

First genetic analysis of ancient human remains in Africa suggests massive migration from north around time of Egyptian empire More

NASA: Pluto Has Blue Sky

New photos also reveal the presence of water ice More

This forum has been closed.
There are no comments in this forum. Be first and add one

Featured Videos

Your JavaScript is turned off or you have an old version of Adobe's Flash Player. Get the latest Flash player.
Hungary Criticized for Handling of Refugeesi
Henry Ridgwell
October 08, 2015 8:02 PM
Amnesty International has accused Hungary of breaking multiple international and European human rights laws in its handling of the refugee crisis. As Henry Ridgwell reports, thousands of migrants and refugees continue to travel through the Balkans to Hungary every day.

Video Hungary Criticized for Handling of Refugees

Amnesty International has accused Hungary of breaking multiple international and European human rights laws in its handling of the refugee crisis. As Henry Ridgwell reports, thousands of migrants and refugees continue to travel through the Balkans to Hungary every day.

Video Iraqi-Kurdish Teachers Vow to Continue Protest

Sixteen people were injured when police used tear gas and rubber bullets to disperse teachers and other public employees who took to the streets in Iraq’s Kurdish north, demanding their salaries from the Kurdish Regional Government (KRG). VOA’s Dilshad Anwar, in Sulaimaniya, caught up with protesting teachers who say they have not been paid for three months. Parke Brewer narrates his report.

Video Syrian Village Community Faces Double Displacement in Lebanon

Driven by war from their village in southwestern Syria, a group of families found shelter in Lebanon, resettling en masse in a half-built university to form one of the biggest settlements of its kind in Lebanon. Three years later, however, they now face being kicked out and dispersed in a country where finding shelter as a refugee can be especially tough. John Owens has more for VOA from the city of Saida, also known as Sidon.

Video Bat Colony: Unusual Tourist Attraction in Texas

The action hero Batman might be everyone’s favorite but real bats hardly get that kind of adoration. Put more than a million of these creatures of the night together and it only evokes images of horror. Sarah Zaman visited the largest urban bat colony in North America to see just how well bat and human get along with each other.

Video Device Shows Promise of Stopping Motion Sickness

It’s a sickening feeling — the dizziness, nausea and vomiting that comes with motion sickness. But a device now being developed could stop motion sickness by suppressing certain signals in the brain. VOA’s Deborah Block reports.

Video Making a Mint

While apples, corn, and cranberries top the list of fall produce in the US, it’s also the time to harvest gum, candy, and toothpaste—or at least the oil that makes them minty fresh. Erika Celeste reports from South Bend, Indiana on the mint harvest.

Video Activists Decry Lagos Slum Demolition

Acting on a court order, authorities in Nigeria demolished a slum last month in the commercial capital, Lagos. But human rights activists say the order was illegal, and the community was razed to make way for a government housing project. Chris Stein has more from Lagos.

Video TPP Agreed, But Faces Stiff Opposition

President Barack Obama promoted the Trans-Pacific Partnership on Tuesday, one day after 12 Pacific Rim nations reached the free trade deal in Atlanta. The controversial pact that would involve about 40 percent of global trade still needs approval by lawmakers in respective countries. Zlatica Hoke reports Obama is facing strong opposition to the deal, including from members of his own party.

Video Ukranian Artist Portrays Putin in an Unusual Way

As Russian President Vladimir Putin was addressing the United Nations in New York last month, he was also being featured in an art exhibition in Washington. It’s not a flattering exhibit. It’s done by a Ukrainian artist in a unique medium. And its creator says it’s not only a work of art - it’s a political statement. VOA’s Tetiana Kharchenko has more.

Video Nano-tech Filter Cleans Dirty Water

Access to clean water is a problem for hundreds of millions of people around the world. Now, a scientist and chemical engineer in Tanzania (in East Africa) is working to change that by creating an innovative water filter that makes dirty water safe. VOA’s Deborah Block has the story.

Video Demand Rising for Organic Produce in Cambodia

In Cambodia, where rice has long been the main cash crop, farmers are being encouraged to turn to vegetables to satisfy the growing demand for locally produced organic farm products. Daniel de Carteret has more from Phnom Penh.

Video Botanists Grow Furniture, with Pruning Shears

For something a bit out of the ordinary to furnish your home, why not consider wooden chairs, crafted by nature, with a little help from some British botanists with an eye for design. VOA’s Jessica Berman reports.

VOA Blogs