Researchers have made a potential breakthrough in understanding how Fragile X syndrome affects the brain.
Fragile X syndrome is the leading known cause of autism. Studies suggest that as many as one in every two people (50 per cent) who have Fragile X syndrome also have autism.
Professor André Fenton: his research found neurons in mice affected by Fragile X syndrome fail to interact normally
Scientists at New York University discovered neurons in mice with a genetic defect that causes Fragile X syndrome.
The findings suggest that treatment for Fragile X syndrome should involve correcting the way neurons interact, rather than targeting genetic mutations that shape how they behave.
‘Good news’ for therapy
Senior author of the research Professor André Fenton said the abnormal interactions cause “cognitive impairment”, or learning disabilities.
Fenton said the “good news” is that we can now “pursue a therapeutic strategy that targets neuronal interactions” rather than the “effects of a genetic mutation”.
In an email, Fenton added that the behaviour of the neurons in failing to interact forms an “interesting parallel” with autism’s “social abnormalities”.
Cause of Fragile X syndrome
The cause of Fragile X syndrome is a mutation that shuts down the FMR1 gene. This means that the gene is unable to act normally to produce the gene FMRP.
In their study, the scientists mutated the FMR1 gene in mice so that it could not produce FMRP. The protein is vital for learning and memory.
In a series of tests, the Fragile X mice could learn and remember a location they should avoid, where they were given a mild foot shock.
But when the place was moved, the Fragile X mice could not avoid the new location. This was unlike control group mice, which rapidly adapted to the change.
When the researchers looked into what explained these thinking deficits, they found a lack of co-ordination among neurons.
Researchers say organised interaction is crucial in processing information.
The research appeared in the journal Neuron.
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Published: 27 January 2018
