Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Autism genome project identifies genetic variants that may make people susceptible to disorder

10.06.2010
An international consortium of researchers from more than 70 universities, including the University of Utah, has reported that a study of nearly 2,300 people supports the growing consensus that autism is caused in part by rare genetic changes called copy number variants (CNVs).

The study findings, constituting the results of the second phase of the Autism Genome Project (AGP), were published in Nature on June 9, 2010. The study also identifies several new genes and pathways that appear to contribute to the susceptibility to autism and related autism spectrum disorders (ASDs). Autism Speaks, an autism science and advocacy organization, is a major sponsor of the AGP.

Hilary Coon, Ph.D., a lead author on the study and research professor of psychiatry at the University of Utah School of Medicine, said while research shows scientists are making progress in understanding the causes of autism, it is increasingly clear that autism is a multifaceted disorder with both genetic and environmental causes. "We are whittling away at it," Coon said. "But a brain-related disorder, such as autism, is amazingly complex. It's not really one entity."

Autism is a neurobiological disorder that inhibits a person's ability to communicate and develop social relationships, and is often accompanied by behavioral challenges. Autism spectrum disorders are diagnosed in one in 110 children in the United States, affecting four times as many boys as girls. The prevalence of autism increased 57 percent from 2002 to 2006. The Centers for Disease Control and Prevention have called autism a national public health crisis whose cause and cure remain unknown.

The researchers enlisted 996 people with autism and 1,287 without the disorder – including participants from more than180 Utah families. The study focused on more than 100 genes previously implicated in ASD and intellectual disability, and found that those with autism carried a higher number of rare CNVs – small deletions or additions to the DNA sequence – than those without the disorder. The researchers found that while some of these CNVs are inherited, others are new variations in individuals with autism. The specific consequences of each CNV aren't known, but in those with autism they may alter the function of those genes.

These CNVs are found in an estimated 1 percent of the population and could account for up to 3.3 percent of autism cases, according to the study. While that is a relatively small percentage, it represents many thousands of people with the disorder.

Along with the CNVs, the study also identified three new genes and the chromosomal locations (loci) of two other genes the researchers believe make individuals more susceptible to autism. These genes – SHANK2, SYNGAP1, DLGAP2 and the DDX53–PTCHD1 loci (on the X chromosome) – belong to synaptic pathways that allow neurons to conduct electrical and chemical signals and are involved in cellular proliferation and intracellular signaling. Identifying these genes could aid in the search for new therapies to treat autism. But even if it proves possible to develop new drugs that target those genes, it will take many years to accomplish.

The Autism Genome Project (AGP, www.autismgenome.org) consists of 120 scientists from more than 60 institutions and 11 countries who formed a first-of-its-kind autism genetics consortium. The AGP began in 2002 when researchers from around the world decided to come together and share their samples, data, and expertise to facilitate the identification of autism susceptibility genes. This continuing collaboration and its unique scientific assets (e.g., large sample set and multidisciplinary expertise) created scientific opportunities that otherwise would not exist. The AGP is well positioned to build on these extraordinary assets as the field of autism genetics further investigates rare variants, requiring larger sample sets to identify more CNVs. Additional support for Phase 2 of the AGP was provided by the National Institutes of Health. The first phase of the AGP, the assembly of the largest-ever autism DNA collection and whole genome linkage scan, was funded by Autism Speaks and the National Institutes of Health and completed in 2007.

William M. McMahon, professor and chairman of the University of Utah Department of Psychiatry, and Judith Miller PhD, assistant professor of psychiatry also are investigators in the AGP and contributed to the Nature study.

Along with Autism Speaks, the following organizations provide funding for the AGP: the Medical Research Council, Canadian Institutes of Health Research, Health Research Board (Ireland), Genome Canada, the Hilibrand Foundation, and Autistica.

Autism Speaks is North America's largest autism science and advocacy organization. Since its inception in 2005, Autism Speaks has made enormous strides, committing over $142.5 million to research through 2014 and developing innovative new resources for families. The organization is dedicated to funding research into the causes, prevention, treatments and a cure for autism; increasing awareness of autism spectrum disorders; and advocating for the needs of individuals with autism and their families. In addition to funding research, Autism Speaks also supports the Autism Treatment Network, Autism Genetic Resource Exchange and several other scientific and clinical programs. Autism Speaks has played a critical role in securing federal legislation to advance the government's response to autism, and has successfully advocated for insurance reform to cover behavioral treatments. Each year Walk Now for Autism Speaks events are held in more than 80 cities across North America. To learn more about Autism Speaks, please visit www.autismspeaks.org.

Phil Sahm | EurekAlert!
Further information:
http://www.utah.edu
http://www.autismspeaks.org

Further reports about: ASD Autism CNV DNA Genom Nature Immunology Utah autism spectrum disorders health services

More articles from Health and Medicine:

nachricht NIST scientists discover how to switch liver cancer cell growth from 2-D to 3-D structures
17.11.2017 | National Institute of Standards and Technology (NIST)

nachricht High speed video recording precisely measures blood cell velocity
15.11.2017 | ITMO University

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

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

Im Focus: A “cosmic snake” reveals the structure of remote galaxies

The formation of stars in distant galaxies is still largely unexplored. For the first time, astron-omers at the University of Geneva have now been able to closely observe a star system six billion light-years away. In doing so, they are confirming earlier simulations made by the University of Zurich. One special effect is made possible by the multiple reflections of images that run through the cosmos like a snake.

Today, astronomers have a pretty accurate idea of how stars were formed in the recent cosmic past. But do these laws also apply to older galaxies? For around a...

Im Focus: Visual intelligence is not the same as IQ

Just because someone is smart and well-motivated doesn't mean he or she can learn the visual skills needed to excel at tasks like matching fingerprints, interpreting medical X-rays, keeping track of aircraft on radar displays or forensic face matching.

That is the implication of a new study which shows for the first time that there is a broad range of differences in people's visual ability and that these...

Im Focus: Novel Nano-CT device creates high-resolution 3D-X-rays of tiny velvet worm legs

Computer Tomography (CT) is a standard procedure in hospitals, but so far, the technology has not been suitable for imaging extremely small objects. In PNAS, a team from the Technical University of Munich (TUM) describes a Nano-CT device that creates three-dimensional x-ray images at resolutions up to 100 nanometers. The first test application: Together with colleagues from the University of Kassel and Helmholtz-Zentrum Geesthacht the researchers analyzed the locomotory system of a velvet worm.

During a CT analysis, the object under investigation is x-rayed and a detector measures the respective amount of radiation absorbed from various angles....

Im Focus: Researchers Develop Data Bus for Quantum Computer

The quantum world is fragile; error correction codes are needed to protect the information stored in a quantum object from the deteriorating effects of noise. Quantum physicists in Innsbruck have developed a protocol to pass quantum information between differently encoded building blocks of a future quantum computer, such as processors and memories. Scientists may use this protocol in the future to build a data bus for quantum computers. The researchers have published their work in the journal Nature Communications.

Future quantum computers will be able to solve problems where conventional computers fail today. We are still far away from any large-scale implementation,...

Im Focus: Wrinkles give heat a jolt in pillared graphene

Rice University researchers test 3-D carbon nanostructures' thermal transport abilities

Pillared graphene would transfer heat better if the theoretical material had a few asymmetric junctions that caused wrinkles, according to Rice University...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Ecology Across Borders: International conference brings together 1,500 ecologists

15.11.2017 | Event News

Road into laboratory: Users discuss biaxial fatigue-testing for car and truck wheel

15.11.2017 | Event News

#Berlin5GWeek: The right network for Industry 4.0

30.10.2017 | Event News

 
Latest News

NASA detects solar flare pulses at Sun and Earth

17.11.2017 | Physics and Astronomy

NIST scientists discover how to switch liver cancer cell growth from 2-D to 3-D structures

17.11.2017 | Health and Medicine

The importance of biodiversity in forests could increase due to climate change

17.11.2017 | Studies and Analyses

VideoLinks
B2B-VideoLinks
More VideoLinks >>>