Mutations in Specific Gene Involved in Autism Development


Scientists have known that Autism Spectrum Disorders (ASD) are associated with abnormal brain growth, but until recently, the relationship between the two was not understood. A recent study has shown that mutations in a specific gene results in too much growth within the brain, causing specific problems with social interaction.

A team of researchers at the Scripps Research Institute Florida Campus studied mouse models that mimicked certain risk factors found in humans. Damon Page, TSRI biologist who led the study, stated, “What was striking is that these were basically normal animals in terms of behavior, but there were consistent deficits in tests of social interaction and recognition — which approximate a major symptom of Autism”. The study, which was recently published by the journal Human Molecular Genetics, focused on the gene phosphate and tensin homolog, or PTEN.

Previous studied found that PTEN causes increased brain size and social deficits, with symptoms being aggravated by a “hit” to the gene that regulates the levels of neurotransmitter serotonin within the brain. In this new study, the TSRI team explored if the PTEN mutations resulted in widespread or localized overgrowth in the brain. They also focused on whether or not the changes in brain growth are associated with broad or specific deficits in Autism-related behavior tests in mice.

The team focused on specific behaviors, including mood, anxiety, intellectual ability, circadian rhythm, and sleep abnormalities. Researchers found that the PTEN mutant mice showed altered social behavior. Furthermore, the impairments appeared to be gender-specific. Males with the mutated gene appeared to have more significant social impairment, as well as showed abnormalities related to repetitive behavior and mood and anxiety. Females, on the other hand, exhibited additional circadian activity and emotional learning issues.

These results lead researchers to believe that PTEN mutations can have a direct effect on behavior and cognitive development. PTEN mutations may disrupt the normal pattern of growth in key cells, such as dopamine neurons, essential in the development of social behaviors. The results of this study will lead researchers to further investigate the relationship between gene mutations, brain growth, and Autism disorders.

The ICare4Autism International Autism Conference will be discussing the latest Autism research and medical advances on July 1st  in NYC. Speakers include Dr. Eric Hollander, Chairman of the ICare4Autism Advisory Council, and Director of the Autism and Obsessive Compulsive Program, Albert Einstein College of Medicine and Montefiore Medical Center. Dr. Hollander, who is deeply involved in various aspects of Autism research, will be giving presentations, as well as lead a question and answer session. To hear Dr. Hollander speak, please select tickets for the conference here.  Early bird ticket specials are still available! This is an Autism conference that you will not want to miss!

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