Chromosome Abnormality and Autistic Behavior Auburn NY

Mice with an extra chromosome region inherited from their fathers display many behaviors seen in people with autism, a finding that suggests that the same chromosome abnormality in humans is one cause of autism, according to Japanese scientists.

The mice will be an important tool in efforts to develop treatments for autism, the researchers from Hiroshima University say. Their report appears in the June 26 issue of the journal Cell.

The duplicated chromosomal region in mice is the equivalent of human chromosome 15q11-13, which is duplicated in about 5 percent of all people with autism. It is believed that chromosomal abnormalities account for 10 to 20 percent of autism cases, according to a news release from the journal's publisher, Cell Press. So far, duplication of chromosome 15q11-13 is the only recurrent aberration connected to autism.

The mice with an inherited duplication of a region on their chromosome 7 showed autism-like behaviors, such as poor social interaction, behavioral inflexibility, abnormal vocalizations and anxiety, the researchers found.

"The link between social behaviors in rodents and social behavior in humans is difficult to establish," the study authors concluded. "Our model mouse will be valuable not only for therapeutic studies but also provides a starting point for more detailed genetic analysis directed toward understanding the etiology of developmental brain disorders."

More information

The U.S. National Institute of Neurological Disorders and Stroke has more about autism.

SOURCE: Cell Press, news release, June 25, 2009

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