Press Release

For Immediate Release
Contact: Susan Preston
(973) 972-7265

New Jersey Researchers Identify A Possible Autism Gene

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 spectrum disorders.

"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 School.

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," she said.

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.

###