Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Vanderbilt researchers help reveal complex role of genes in autism

05.04.2012
Multicenter study hones in on 2 genes as likely risk factors

Mutations in hundreds of genes involved in wiring the brain may contribute to the development of autism spectrum disorders (ASD).

That is one of the rather daunting conclusions of a paper published in the current issue of the journal Nature by a multi-institutional team that included researchers at Vanderbilt University Medical Center.

But while there is no simple explanation for ASD, the researchers identified a few genes as "genuine risk factors," raising hopes that they will be able to discover the underlying biological cause of these disorders. Numerous other genes are also strongly implicated based on their biological functions and roles in conditions related to ASD.

That knowledge could lead, in the future, to the ability to determine one's risk for developing autism and to new, more effective and personalized ways to treat individuals with an ASD, said James Sutcliffe, Ph.D., associate professor of Molecular Physiology & Biophysics and of Psychiatry at Vanderbilt, and a senior author of the paper.

Autism is a spectrum of developmental disorders characterized by impairments in communication and social interaction, and patterns of repetitive, restricted and stereotyped behaviors. According to the U.S. Centers for Disease Control and Prevention, it occurs in one in 88 children in the United States.

Researchers believe that 80 percent to 90 percent of the risk of developing ASD results from genetic factors. Despite this, only a few inherited risk factors have been discovered to date.

In the current study of 175 children with ASD and their parents, researchers in the ARRA Autism Sequencing Collaborative scoured the genome – using a technique called massively parallel sequencing – to search for mutations that might affect autism risk.

In addition to Vanderbilt, the collaborative includes researchers from Boston at the Broad Institute of MIT and Harvard and Massachusetts General Hospital, along with Baylor College of Medicine, Mount Sinai School of Medicine, the University of Pennsylvania, Carnegie Mellon University, and the University of Pittsburgh.

The researchers focused on the exome, the fraction of the human genome coding for proteins. They searched for single-letter DNA mutations that occurred spontaneously in the children and which were not present in their parents' genome.

Although rare, these so-called de novo point mutations tended to occur in genes that are functionally related to each other and to previously identified autism genes. This suggests that the proteins they encode may in some cases physically interact with each other. The relationships among the proteins encoded by these genes further supports their likely role as ASD risk factors.

With data from two other studies published in the current issue of Nature and with additional exome sequencing, the researchers identified two candidate genes. However, they explain less than 1 percent of the genetic risk of autism.

"These results clearly demonstrate the potential of DNA sequencing to articulate specific risk factors for autism," said the Broad Institute's Mark Daly, Ph.D., who, like Sutcliffe, is a senior author of the paper and a lead investigator of the ARRA Autism Sequencing Collaborative.

"We have only scratched the surface, but with continued collaborative efforts, these gene discoveries will point us to the underlying biological roots of autism."

The research described in the Nature paper was supported by ARRA (stimulus) funding from the National Institute of Mental Health and the National Human Genome Research Institute.

Bill Snyder | EurekAlert!
Further information:
http://www.vanderbilt.edu

More articles from Life Sciences:

nachricht Cancer diagnosis: no more needles?
25.05.2018 | Christian-Albrechts-Universität zu Kiel

nachricht Less is more? Gene switch for healthy aging found
25.05.2018 | Leibniz-Institut für Alternsforschung - Fritz-Lipmann-Institut e.V. (FLI)

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Powerful IT security for the car of the future – research alliance develops new approaches

The more electronics steer, accelerate and brake cars, the more important it is to protect them against cyber-attacks. That is why 15 partners from industry and academia will work together over the next three years on new approaches to IT security in self-driving cars. The joint project goes by the name Security For Connected, Autonomous Cars (SecForCARs) and has funding of €7.2 million from the German Federal Ministry of Education and Research. Infineon is leading the project.

Vehicles already offer diverse communication interfaces and more and more automated functions, such as distance and lane-keeping assist systems. At the same...

Im Focus: Molecular switch will facilitate the development of pioneering electro-optical devices

A research team led by physicists at the Technical University of Munich (TUM) has developed molecular nanoswitches that can be toggled between two structurally different states using an applied voltage. They can serve as the basis for a pioneering class of devices that could replace silicon-based components with organic molecules.

The development of new electronic technologies drives the incessant reduction of functional component sizes. In the context of an international collaborative...

Im Focus: LZH showcases laser material processing of tomorrow at the LASYS 2018

At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.

At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...

Im Focus: Self-illuminating pixels for a new display generation

There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?

At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

In focus: Climate adapted plants

25.05.2018 | Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

 
Latest News

In focus: Climate adapted plants

25.05.2018 | Event News

Flow probes from the 3D printer

25.05.2018 | Machine Engineering

Less is more? Gene switch for healthy aging found

25.05.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>