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 Indiana Controversy Points to Divergent Notions of Religious Freedom

Gay-marriage opponents are looking for ways to maintain their beliefs in face of changing culture, one writer says More

UNICEF Denies North Korean Measles Outbreak

Agency dismisses Russian media report after government, WHO assurances More

Turkey Seen Taking Harder Stance Against Militant Kurds

Stance comes as President Recep Tayyip Erdogan is being seen as moving closer to generals More

This forum has been closed.
Comments
     
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.
Indiana Controversy Highlights Divergent Meanings of Religious Freedomi
X
Jerome Socolovsky
April 01, 2015 1:41 AM
Indiana’s state government has triggered a nationwide controversy by approving a law that critics say is aimed at allowing discrimination against gays and lesbians. The controversy stems from divergent notions of religious freedom in America. VOA's Jerome Socolovsky reports.
Video

Video Indiana Controversy Highlights Divergent Meanings of Religious Freedom

Indiana’s state government has triggered a nationwide controversy by approving a law that critics say is aimed at allowing discrimination against gays and lesbians. The controversy stems from divergent notions of religious freedom in America. VOA's Jerome Socolovsky reports.
Video

Video Nigerians Welcome Buhari's Return to Power

Crowds of jubilant Nigerians nationwide have celebrated the return to power of former military ruler Muhammadu Buhari. The retired army general won this year's presidential election with more than 2 million votes more than incumbent President Goodluck Jonathan. Buhari's supporters hope he can strengthen the country's economy and security once he takes office in late May. Zlatica Hoke has this story.
Video

Video Report: State of Black America a 'Tale of Two Nations'

The National Urban League has described this year's "State of Black America" report as a "tale of two nations." The group's annual report, released earlier this month (March), found that under an equality index African Americans had only 72% parity compared to whites in areas such as education, economics, health, social justice and civic engagement. It’s a gap that educators and students at Brooklyn’s Medgar Evers College are looking to close. VOA's Daniela Schrier reports from the school.
Video

Video Film Tells Story of Musicians in Mali Threatened by Jihadists

At this year's annual South by Southwest film and music festival in Austin, Texas, some musicians from Mali were on hand to promote a film about how their lives were upturned by jihadists who destroyed ancient treasures in the city of Timbuktu and prohibited anyone from playing music under threat of death. As VOA’s Greg Flakus reports from Austin, some are afraid to return to their hometowns even though the jihadists are no longer in control there.
Video

Video Gamma Ray Observatory to Open Soon in Mexico

American and Mexican scientists have completed construction of the world's largest gamma ray observatory, situated high in central Mexico’s Sierra Negra Mountain. The observatory's huge array of water-based detectors will soon start discovering secrets about black holes and supernovas. VOA’s George Putic reports.
Video

Video Ebola Vaccine Trials Underway in West Africa

Ebola has claimed the lives of more than 10,000 people in West Africa. Since last summer, researchers have rushed to get anti-Ebola vaccines into clinical trials. While it's too early to say that any of the potential vaccines work, some scientists say they are seeing strong results from some of the studies. VOA's Carol Pearson reports.
Video

Video Philippines Wants Tourists Spending Money at New Casinos

Tourism is a multi-billion dollar industry in the Philippines. Close to five million foreign visitors traveled there last year, perhaps lured by the country’s tropical beaches. But Jason Strother reports from Manila that the country hopes to entice more travelers to stay indoors and spend money inside new casinos.
Video

Video Civilian Casualties Push Men to Join Rebels in Ukraine

The continued fighting in eastern Ukraine and the shelling of civilian neighborhoods seem to be pushing more men to join the separatist fighters. Many of the new recruits are residents of Ukraine made bitter by new grievances, as well as old. VOA's Patrick Wells reports.
Video

Video Islamic State Prisoners Talk of Curiosity, God, Regret

Islamic State fighter, a prisoner of Kurdish YPG forces, asked his family asking for forgiveness: "I destroyed myself and I destroyed them along with me." The Syrian youth was one of two detainees who spoke to VOA’s Kurdish Service about the path they chose; their names have been changed and identifying details obscured. VOA's Zana Omer reports.
Video

Video Germanwings Findings Raise Issue of Psychological Testing for Pilots

More is being discovered about the co-pilot in the crash of Germanwings Flight 9525 in the French Alps. Investigators say he was hiding a medical condition, raising questions about the mental qualifications of pilots. VOA's Carolyn Presutti reports.
Video

Video Liberia's Almost Last Ebola Patient Grateful but Still Grieving

Beatrice Yardolo was to make history as Liberia’s last Ebola patient. Liberians recently started counting down 42 days, the period that has to go by without a single new infection until the World Health Organization can declare a country Ebola-free. That countdown stopped on March 20 when there was another new case of Ebola, making Yardolo’s story a reminder that Ebola is far from over. Benno Muchler reports from Monrovia.
Video

Video Cambodian Land Grabs Threaten Traditional Communities

Indigenous communities in Cambodia's Ratanakiri province say the government’s economic land concession policy is taking away their land and traditional way of life, making many fear that their identity will soon be lost. Local authorities, though, have denied this is the case. VOA's Say Mony went to investigate and filed this report, narrated by Colin Lovett.

VOA Blogs

Circumventing Censorship

An Internet Primer for Healthy Web Habits

As surveillance and censoring technologies advance, so, too, do new tools for your computer or mobile device that help protect your privacy and break through Internet censorship.
More