Researchers at the University of Leeds have shed light on a gene mutation linked to autistic traits.

The team already knew that some people with autism were deficient in a gene called neurexin-II. To investigate whether the gene was associated with autism symptoms, the Leeds team studied mice with the same defect.

They found behavioural features that were similar to autism symptoms, including a lack of sociability or interest in other mice.

Dr Steven Clapcote, Lecturer in Pharmacology in the Universitys Faculty of Biological Sciences, who led the study published in the journal Translational Psychiatry today, said: In other respects, these mice were functioning normally. The gene deficiency mapped closely with certain autism symptoms.

Dr Clapcote added: This is exciting because we now have an animal model to investigate new treatments for autism.

The researchers also looked at how the absence of neurexin-II was affecting the brain.

Co-author Dr James Dachtler, Wellcome Trust Junior Investigator Development Fellow in the Faculty of Biological Sciences at Leeds, said: We found that the affected mice had lower levels of a protein called Munc18-1 in the brain. Munc18-1 usually helps to release neurotransmitter chemicals across synaptic connections in the brain, so neurotransmitter release could be impaired in the affected mice and possibly in some cases of autism.

Research by Professor Thomas Südhof, a Nobel prize-winning biochemist at Stanford University, previously established a link between autism symptoms and neuroligin-1, another gene associated with synapse signalling. The Leeds-led study is the first to find a connection with neurexin-II.

Dr Clapcote said: Not all people with autism will have the neurexin-II defect, just as not all will have the neuroligin defect, but we are starting to build up a picture of the important role of genes involved in these synapse communications in better understanding autism.

The research was funded by the Medical Research Council and by the Wellcome Trusts Institutional Strategic Support Fund.

Further information

Dr Dachtler and Dr Clapcote are available for interview. Contact the University of Leeds press office on +44 113 343 4031 or email pressoffice@leeds.ac.uk.

The full paper: James Dachtler et al. Deletion of ?-neurexin II results in autism-related behaviors in mice is published in Translational Biology is published in Translational Psychiatry. (DOI: 10.1038/TP.2014.123; URL: http://www.nature.com/tp/journal/v4/n11/abs/tp2014123a.html). Copies of the paper are available on request to members of the media from the University of Leeds press office.