Study reveals possible link between autism and oxytocin gene via non-DNA sequence mutation

October 21, 2009

A new study indicates a link between autism and alterations to the oxytocin receptor, OXTR, caused by inherited alterations that do not involve DNA sequence mutation. The study, published in the open access journal BMC Medicine, identified the non-DNA change in 'OXTR' via an autistic child and his mother, who potentially has obsessive-compulsive disorder.

Dr Simon Gregory headed up a team from the US, UK and Italy, who analysed the DNA of 119 people with autism and 54 neurotypical individuals. He said, "As many as 1 in 150 children in the US are born with a form of autism. We have shown that the non-DNA sequence mutation in the gene responsible for the oxytocin receptor is altered in both peripheral blood cells and the temporal cortex of the brain".

The oxytocin pathway has many known effects, from facilitating breast-feeding to childbirth and social interaction. This discovery shows that it also plays a major role in human development.

Dr Gregory concludes, "This study provides additional evidence for the role of oxytocin and its receptor in the development of autism. It also shows that autism will be caused by a number of different factors, not just those involving the sequence of our genomes".
-end-
Notes to Editors:

1. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
Simon G Gregory, Jessica J Connelly, Aaron J Towers, Jessica Johnson, Dhani Biscocho, Christina A Markunas, Carla Lintas, Ruth K Abramson, Harry H Wright, Peter Ellis, Cordelia F Langford, Gordon Worley, G Robert Delong, Susan K Murphy, Michael L Cuccaro, Antonello Persico and Margaret A Pericak-Vance
BMC Medicine (in press)

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