Disruption of Specific Gene May Result in Autistic Behaviors

Researchers have discovered that Autistic behaviors and decreased cognitive ability may be associated with the disruption of a specific gene. Researchers at the Sackler School of Graduate Biomedical Sciences at Tufts studied the function of the Adenomatous Polyposis Coli (APC) gene in mice, and noticed that when they deleted the gene from select neurons, the mice showed reduced social behavior, increased repetitive behavior, impaired learning, as well as other behaviors associated with Autism.

This is the first study that has been done to evaluate the loss or damage of APC from nerve cells in the forebrain: the area of the brain which affects development, learning, and behavior. In addition to the behavioral changes that were recorded, researchers discovered significant molecular changes in the brain. These molecular changes are likely relevant to Autism disorders in humans, based on the identified risk genes. Researchers state that APC strongly regulates particular protein levels, maintaining them within a range that is critical to normal learning and memory.

Jonathan Alexander, researcher at Tufts, states, “What makes this study interesting is that although there are hundreds of risk genes implicated in autism, the removal of this single gene produced a multi-syndromic disorder similar to that seen in individuals with both cognitive deficits and autism. The APC-deficient mice are noticeably different from normal mice in their impaired learning, poor memory consolidation, repetitive behaviors, and reduced social interest.” When APC is eliminated from a specific type of cell in the brain during a critical period of brain development, it results in deregulation of key signaling pathways, resulting in both cognitive and behavioral changes.

Dr. Antonella Pirone, co-author of the study, adds, “This study demonstrates the vital role that APC plays as a central hub that links to and regulates multiple signaling pathways within nerve cells that are essential for normal cognition and social behavior,”. As a result, the identification of Autistic behaviors as a result of APC disruption or loss should lead to further development of drug treatments that target this gene.

The ICare4Autism International Autism Conference will be discussing other research studies and medical advances on July 1st in NYC. Speakers include the incredible Dr. Martha Herbert, who is a Pediatric Neurologist, an Assistant Professor of Neurology at Harvard Medical School, and the Director of the TRANSCEND Research Program. Dr. Herbert will discuss the importance of research and evaluation to detect signs of ASD at a very early age. To hear Dr. Herbert’s presentation, please select tickets here. Early bird ticket specials are still available. This is an Autism conference you will not want to miss!

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