Fragile X Study Brings Hope for New Autism Treatment

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According to a study done by researchers University of Edinburgh and McGill University, people with Fragile X could be helped by a drug currently being tested for the treatment of cancer.

Fragile X Syndrome is the most common genetic cause of autism spectrum disorders. It affects around 1 in 4,000 boys and 1 in 6,000 girls. Fragile X currently has no proven cure.

In past studies these scientists have found that in people with Fragile X have a chemical pathway in their brains that does not operate the same way as those without Fragile X syndrome. In a recent study the scientists have found that a drug currently in trial for cancer treatment could reverse behavioral symptoms in Fragile X. The researchers have found that a naturally occurring anti-fungal called cercosporamide can block the pathway and improve sociability in mice with the condition.

The researchers identified eIF4E as the key molecule that causes the brains of Fragile X patients to produce excess protein. eIF4E may cause learning difficulties, more serious intellectual disabilities, delays in speech and language development, and difficulties in social interactions.

Nahum Sonenberg, McGill professor in the Faculty of Medicine and the Goodman Cancer Research Centre and co-author of the study says, “We 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. Excess MMP-9 disrupts communication between brain cells, leading to changes in behavior.”

The study showed that by treating Fragile X patients with cercosporamide the activity of EIF4E was blocked. This reduces the activity of MMP-9 thus reducing the behavioral symptoms of Fragile X symptom. These findings suggest that this treatment could be used to treat Fragile X patients.

“Our findings open the door to targeted treatments for Fragile X Syndrome,” says Christos Gkogkas, of the University of Edinburgh’s Patrick Wild Centre for Research into Autism, Fragile X Syndrome and Intellectual Disabilities. “By designing treatments that block just this pathway, it is hoped that we can limit the potential side-effects and develop therapies that are more efficient than general treatment approaches.”

To learn more click here. Article written by our intern staff writer Rachel Kaplan.

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