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CSHL Scientists Confirm Genetic Distinction Between Heritable and Sporadic Cases of Autism
Science Publishes "Strong association of de novo copy number variation with autism"
| Source: Cold Spring Harbor Laboratory
COLD SPRING HARBOR, NY -- (MARKET WIRE) -- March 15, 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. For more information visit
www.cshl.edu.