Developmental disorders, such as autism spectrum disorder and attention deficit disorder (ADD), are reported in approximately one in six children in the United States. These disorders can create challenges not only for those affected by the disorder, but also for their loved ones as well. Fragile X syndrome is one such disorder that causes learning disabilities and cognitive impairments. Children with the disorder display anxiety and hyperactive behavior.
Fragile X syndrome is found in approximately one in 4,000 males and one in 8,000 females. Carriers, or those with fragile X syndrome who don’t exhibit full-blown symptoms, display less noticeable social deficits and milder cognitive and behavioral disorders.
Image Source: Maciej Frolow
New research from the Washington University School of Medicine in St. Louis identified a potential enzyme that could be targeted to develop a treatment for fragile X carriers, a population of approximately one million women and 320,000 men in the US. People with full-blown fragile X syndrome completely lose the ability to make an important protein in the brain. Carriers, on the other hand, are able to produce the protein, but in a notably reduced amount compared to people without the disorder.
Azad Bonni, MD, PhD, the department head of anatomy and neurobiology at Washington University’s School of Medicine, indicated that their research has identified a possible method of increasing the levels of this protein in carriers, which could lead to a treatment for their symptoms.
Bonni was studying an enzyme called Cdh1-APC and found indications that it’s linked to the fragile X protein. He and his fellow researchers removed the enzyme in mice and observed a synapse between nerve cells in the hippocampus, a part of the brain that plays a role in learning and memory. They discovered that the removal of Cdh1-APC resulted in a change in the signaling process across the synapse. Bonni also identified a segment on the fragile X protein where Cdh1-APC binds itself to the protein and marks it, leading to its destruction. The marking mechanism of Cdh1-APC is what contributes to the lower levels of fragile X protein in carriers.
This discovery has the potential to result in treatment for the symptoms experienced by fragile X carriers. According to Bonni, blocking the interaction between Cdh1-APC and the fragile X protein or blocking Cdh1-APC’s ability to cause its degradation should reduce some of the symptoms of fragile X syndrome in carriers. Further research is required, however, to investigate this possibility.
Feature Image Source: Synapse by Ben Cadet
