Fragile X Study Offers Hope Of New Autism Treatment

Fragile X Study Offers Hope Of New Autism Treatment
(Image source)
People affected by a common inherited form of autism could be helped by a drug that is being tested as a treatment for cancer. Researchers who have identified a chemical pathway that goes awry in the brains of Fragile X patients say the drug could reverse their behavioural symptoms. The study is published in the journal Cell Reports.
 
The scientists have found that a known naturally occurring chemical called cercosporamide can block the pathway and improve sociability in mice with the condition. The team 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.
 
They 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. Treatment with 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, the team showed.
 
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.
 
The findings open the door to targeted treatments for Fragile X Syndrome. By designing treatments that block just this pathway, it is hoped to limit the potential side-effects and develop therapies that are more efficient than general treatment approaches.