WUSTL Team Finds Potential Treatment for Fragile X Carriers

For some diseases, one can “carry” the disease without showing any of its symptoms. In the case of Fragile X syndrome, a cause of autism and intellectual disability, there’s no such concept. However, researchers at Washington University at St. Louis are working on a way to reduce these carrier symptoms.

Fragile X syndrome is associated with several cognitive and behavioral disorders such as attention deficit hyperactivity and various levels of autism. Carriers of Fragile X, despite not having the full disease, still display milder versions of these disorders. To solve the mystery of why the carriers still exhibited symptoms, Dr. Azad Bonni (left, courtesy WUSTL) began studying carriers at the genetic level.

What he found explained much more about Fragile X syndrome as a disease.

“Full-blown fragile X syndrome eliminates the body’s ability to make a key brain protein,” explains Bonni, head of the Department of Anatomy and Neurobiology at the School of Medicine. “In contrast, carriers of the mutation make the protein but produce significantly less of it than people without the mutation.”

At the most basic level, the protein in question helps prevent mental retardation. The next question the team had to answer was how to get the body to produce enough of this protein.

As it turns out, the reason the body produces insufficient amount of the protein in Fragile X syndrome is because an enzyme known as Cdh1-APC breaks it down.

“If we can find a way to block the interaction between Cdh1-APC and the fragile X mental retardation protein or to block the ability of Cdh1-APC to cause degradation of the protein, that should make more of the fragile X protein available in the brain and reduce some of the symptoms experienced by carriers of this disorder,” says Bonni. The team is currently testing out ideas on how to prevent Cdh1-APC from inhibiting the protein.

This research was supported by a National Institutes of Health grant and a Harvard Medical School-Portugal Program award. For additional information about funding for research at Washington University in St. Louis, read our free WUSTL Funding Statistics Report, available via the link below:

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