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NAAR-funded Study on EN2 Gene Published

Study Co-Authored by Dr. James Millonig & Dr. Linda Brzustowicz Suggests Potential Link to Cerebellum and Autism
April 23, 2007

NAAR-funded researchers James Millonig, Ph.D., and Linda Brzustowicz, M.D., have recently co-authored a new study focusing on the ENGRAILED 2 (EN2) gene and the etiology of autism.

The study, “Association of the Homeobox of the Transcription Factor, Engrailed 2, with Autism Spectrum Disorder,” was published last week in the online edition of Molecular Psychiatry. The study suggests that certain variants of EN2 are inherited nearly twice as frequently in people with autism than in unaffected siblings.

“Our work would have been impossible without the funding from NAAR,” said Dr. Millonig, a researcher at the University of Medicine and Dentistry of New Jersey (UMDNJ) and Robert Wood Johnson Medical School in Piscataway, NJ. “As a junior investigator, we started this project largely on a lark and it was not initially a major focus of the lab. Now with this new result, half the lab is working on autism and we are eager to continue the research.”

Dr. Millonig received a $120,000 two-year award in 2003 from NAAR for his pilot study, “Studying Mouse Cerebellar Development as a Tool to Identify Autism Susceptibility Genes.” He released results from that study at the national conference of the American Society of Human Genetics, held in Los Angeles in November 2003.

“We picked EN2 as one of the top candidates because two different mouse mutants displayed autistic-like cerebellar abnormalities and the human gene maps to 7q36 - a region of the genome that displays suggestive linkage to autism spectrum disorders in the AGRE dataset - the dataset we were using for our studies,” he said.

To test whether EN2 is a candidate, Dr. Millonig and his team performed association studies in collaboration with Dr. Linda Brzustowicz, a NAAR-funded researcher specializing in human genetics at Rutgers University and UMDNJ.

Based on the results of this collaborative work, EN2 appears to be one of the more promising candidate genes for autism susceptibility. In addition, data from the study supports the idea that developmental defects of the cerebellum are involved in autism spectrum disorders.

To read the study published in Molecular Psychiatry, click here