For Immediate Release
Contact: Susan Preston
New Jersey Researchers Identify A Possible
New Jersey researchers have identified a gene that is likely
to be involved in autism. This gene plays an important role during
brain development.The researchers say that their data is one of
the most significant results for any gene involved in autism.
They also said this finding supports the hypothesis that genetic
alterations affecting central nervous system (CNS) development
could predispose individuals to both autism and related autism
"These studies are an important first step in understanding
the genetic basis of autism and the abnormalities in CNS development
that lead to autism," said Dr. James Millonig, assistant professor
of neuroscience and cell biology at the University of Medicine
and Dentistry of New Jersey (UMDNJ)-Robert Wood Johnson Medical
The study will appear in the May issue of Molecular Psychiatry
and is currently available on the journal's web site.
Dr. Millonig, senior author on the study, initiated this project
because he was intrigued by research showing that children diagnosed
with autism usually have an small cerebellum, a region in the
brain that has been implicated in controlling many of the functions
that are impaired in these children, such as language development
and attention span.
From his background in mouse genetics, he knew of published
work stating that a gene called ENGRAILED 2 is involved in mouse
cerebellar development and that when this gene is damaged, the
cerebellum in the mouse is abnormally small.
This gene is also found in humans and maps to a chromosomal
region in the brain to which other studies have linked autism.
From this published information, Dr. Millonig hypothesized that
ENGRAILED 2, the human form of the gene, could be involved with
autism. He teamed with Dr. Linda Brzustowicz, a researcher at
both Rutgers University and UMDNJ-New Jersey Medical School and
co-author of the study, and other colleagues at both universities
to study genetic information from a large data set of 167 families
who have at least two children with autism.
They found that a specific variation in the DNA sequence of
ENGRAILED 2 was twice as likely to be found in the autistic siblings
as the non-autistic siblings.
"Although we cannot be certain about the role of ENGRAILED 2
until we replicate this finding, the strength of the statistical
evidence strongly suggests that this gene is involved in autism,"
said Dr. Millonig, who is also a member of the Center for Advanced
Biotechnology and Medicine, a joint institute of UMDNJ-Robert
Wood Johnson Medical School and Rutgers.
"If we can confirm the role of this developmental gene in autism,
we might be able to identify individuals who have a genetic pre-disposition
to autism and then continue to use the mouse to identify other
genes involved in autism by studying the function of ENGRAILED
2 during CNS development," he said.
"In the future, we might be able to use functional imaging studies
to investigate whether this region of the brain functions differently
in autistic individuals who inherit the form of ENGRAILED 2 associated
with these identified variants and as a result might be able to
tailor more effective therapies for helping these individuals,"
Dr. Millonig said.
Dr. Brzustowicz, who has another research project focused on
whether there is a genetic overlap between autism and language
delay, said, "The unraveling of the genetics of a complex disorder
like autism is like solving a jigsaw puzzle. Each piece that can
be assembled, no matter how small, makes the placement of the
next piece that much easier.
"We are pursuing as many parallel avenues of research as are
feasible to accelerate our understanding of this serious disease,"
Drs. Millonig and Brzustowicz are now trying to replicate the
finding by reviewing genetic data from 365 more families. Dr.
Brzustowicz, director of the Psychiatric Genetics Laboratory at
Rutgers, also is recruiting families from New Jersey with both
autism and a history of language problems in non-autistic individuals
for her other study.
The samples for the ENGRAILED 2 study were acquired from the
Autism Genetic Resource Exchange, a central repository of family
DNA samples created by The Cure Autism Now Foundation and the
Human Biological Data Interchange and distributed by the Rutgers
University Cell Repository, headed by Dr. Jay Tischfield, chairman
of the Department of Genetics at Rutgers.