Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

CSHL Scientists Confirm Genetic Distinction Between Heritable and Sporadic Cases of Autism

21.03.2007
Autism is thought to be the most highly heritable of all neuro-psychiatric disorders. Yet, most cases of this childhood developmental disorder that severely affects social interaction and communication are “sporadic” and come with no family history.

New research, led by Cold Spring Harbor Laboratory (CSHL) scientists Jonathan Sebat, Lakshmi Muthuswamy and Michael Wigler, has found a distinction between heritable and sporadic forms of the disease. These findings may influence future autism research and diagnostic testing.

“We found that many children with autism have spontaneous mutations in their DNA. This occurs more often in the sporadic cases than in either familial cases or in healthy children,” said Sebat. The study, published in the March 16, 2007 edition of Science, reports that at least 10% of children with autism carry an alteration in their DNA that is not found in either parent, a much higher rate than is observed in healthy children. To date, most genetic studies of autism have focused on families with multiple autistic children. “Our findings suggest that sporadic autism is genetically distinct from the type that runs in families, and that we must use different approaches for studying them,” concluded Sebat.

“Sporadic autism is the more common form of the disease, and even the inherited form might derive from a mutation that occurred in a parent or grandparent,” explained Wigler. Using a high-resolution method for analyzing DNA called microarray technology, the researchers found that spontaneous copy number mutations occur primarily in sporadic cases. The study reports that these new mutations were found less frequently in families that have more than one child with autism.

The results strengthen the scientific basis for using microarray technology for diagnostic testing. Methods for detecting spontaneous mutations will provide important information for children with autism and their parents. This information could help to determine the risk of having a second child with autism, and the knowledge of which genes are involved may lead to the development of new therapies.

“This work received the vast bulk of its funding from the Simons Foundation, which generously supported the research when it was little more than an idea and a technique,” Wigler acknowledged. In addition to the Simons Foundation, other supporters of this research included The National Institute of Mental Health, Autism Speaks, Cure Autism Now, and the Southwestern Autism Research and Resource Center.
“This discovery sets a new framework for understanding, diagnosing and potentially treating autism,” said CSHL President Bruce Stillman. CSHL is pursuing a $200 million capital campaign that will include construction of new research facilities dedicated to the study of autism.

The full citation of the paper:

C. Sebat et al., Science, 15 March 2007 (10.1126/science.113569). To access the publication on line go to:
http://www.sciencemag.org/cgi/content/short/1128659

CSHL is a private, non-profit research and education institution dedicated to exploring molecular biology and genetics in order to advance the understanding and ability to diagnose and treat cancers, neurological diseases, and other causes of human suffering.

Alyssa Nightingale | EurekAlert!
Further information:
http://www.cshl.edu
http://www.sciencemag.org/cgi/content/short/1128659

Further reports about: Autism CSHL Mutation Sebat sporadic

More articles from Life Sciences:

nachricht Building a brain, cell by cell: Researchers make a mini neuron network (of two)
23.05.2018 | Institute of Industrial Science, The University of Tokyo

nachricht Research reveals how order first appears in liquid crystals
23.05.2018 | Brown University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

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...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

Im Focus: Entangled atoms shine in unison

A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.

The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
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

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

Research reveals how order first appears in liquid crystals

23.05.2018 | Life Sciences

Space-like gravity weakens biochemical signals in muscle formation

23.05.2018 | Life Sciences

NIST puts the optical microscope under the microscope to achieve atomic accuracy

23.05.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>