Autism model provides possible clue for treatment

Dr Emily Osterweil and researchers at the Patrick Wild Centre for Research into Autism, Fragile X Syndrome and Intellectual Disability have used a genetic mouse model of Fragile X Syndrome, an inherited form of autism, to look at the changes in muscarinic M4 receptor pathway. They found that a paradoxical enhancement of M4 activity normalised activity and reduced seizures in these mice.

Researchers have discovered how the brain can self-correct disruptions in processing, pointing the way towards possible new treatments for autism and intellectual disability.

Scientists made their discovery using mice whose genetic make-up mirrored that seen in the DNA of people with the syndrome. Researchers discovered that enhancing a brain receptor – known as the muscarinic acetylcholine receptor M4 – with drugs led to normalised brain activity and reduced seizures in mice. The study focused on an area of the brain known as the hippocampus, which is linked to learning and memory.

Fragile X syndrome affects about one in 4,000 boys and one in 6,000 girls in the UK. There are no treatments available to overcome the associated learning difficulties. Experts say the findings open new avenues toward developing drug therapies and may shed light on why existing approaches to treatments have failed.

Dr Emily Osterweil (Patrick Wild Centre for Research into Autism, Fragile X Syndrome and Intellectual Disabilities, University of Edinburgh) says: "Our findings give us insights into how Fragile X syndrome affects the brain on a cellular level. Our next steps will be to understand more about the role of the M4 receptor in brain signalling in Fragile X, and its potential role in future drug development studies."

The study, partly funded by the Wellcome Trust and the Royal Society, was published in the journal Neuron.