Previous research has indicated that genetic factors contribute to an individual's likelihood of developing autism. However, the genetics of autism are very complex. It is probable that more than one gene plays a causal role in this disorder. Therefore, it has been difficult to discern which of the many genes might be important. The well-established finding that a significant number of people with autism have elevated levels of blood serotonin and the successful use of medications (potent serotonin transporter inhibitors, PSTIs) that partially treat the rituals in autism led to the possibility that serotonin may play a role in autism. The PSTIs directly block a protein, the serotonin transporter, in some nerve cells in the brain. Therefore, the authors studied 86 people with autism and their parents to examine whether the gene for the serotonin transporter may contribute to the risk for autism. In this process, they have found evidence that there is a significant relationship between autism and this gene. This is not only the first gene to be linked to autism but it is also consistent with long known information suggesting that abnormalities in serotonin functioning may contribute to autism. If replicated by other researchers, this information may eventually contribute to the development of improved diagnosis and medical treatment of autism. For further information, please contact the corresponding author, Dr. Edwin H. Cook, Jr., Director, Laboratory of Developmental Neuroscience, University of Chicago; Tel: +1 773 702-9692; Fax: +1 773 702-9929; e-mail: ed@yoda.bsd.uchicago.edu
EH Cook Jr., R Courchesne, C Lord, NJ Cox, S Yan, A Lincoln, R Haas, E Courchesne, BL Leventhal Departments of Psychiatry and Medicine, University of Chicago; Children's Hospital Research Center, La Jolla, CA, and University of California, San Diego, School of Medicine, USA
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