People affected by Fragile X Syndrome could be helped by a drug that is being tested as a treatment for cancer.
Scientists from the University of Edinburgh and McGill University in Canada have identified a key molecule –
eIF4E – that drives excess protein production in the brains of Fragile X patients. This can cause behavioural symptoms that include learning difficulties.
It can also lead to more serious intellectual disabilities, delays in speech and language development and problems with social interactions. The scientists found that eIF4E regulates the production of an enzyme called MMP-9, which breaks down and re-orders the connections between brain cells called synapses.
This disrupts communication between brain cells leading to changes in behaviour. The team found that treatment with a known naturally occurring chemical called cercosporamide blocks the activity of eIF4E, and
therefore reduces the amounts of MMP-9, and reverses the behavioural symptoms in mice with a version of Fragile X Syndrome.
Cercosporamide is being tested as a treatment for lung cancer and acute myeloid leukemia. The new findings suggest that it could also have a use as a treatment for patients with Fragile X Syndrome. Fragile X Syndrome is the most common genetic cause of autism spectrum disorders. It affects around 1 in 4000 boys and 1 in 6000 girls. Currently, there is no cure.