Brain study reveals clues to treating genetic autism condition

August 2017: Scientists around the group of Dr Emily Osterweil have discovered how the brain can self-correct disruptions in processing, pointing the way towards possible new treatments for autism and intellectual disability.

Targeting faulty brain function with a new drug treatment helped the brain to self-correct, improving cell function and reducing seizures in tests with mice.

The findings by researchers studying Fragile X syndrome – an inherited form of autism – could aid development of therapies and add to the understanding of the condition, which causes learning disabilities and seizures.

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.

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, led by scientists at the University of Edinburgh, focused on an area of the brain known as the hippocampus, which is linked to learning and memory. Experts say the findings open new avenues toward developing drug therapies and may shed light on why existing approaches to treatments have failed.

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

Related links

Article in Neuron

The Patrick Wild Centre

Dr Emily Osterweil's research profile