Seeking new treatments for Fragile X syndrome

Fragile X syndrome is a genetic condition that causes a range of developmental problems and is highly associated with autism spectrum disorder. There is no cure for Fragile X, but with a grant from the Boston Bruins Foundation and the FRAXA Research Foundation scientists at the School of Medicine and Dentistry hope to help in the search for new and effective treatments.

Fragile X results from changes in a single gene, the fragile X mental retardation 1 (FMR1) gene, which makes a protein that is needed for normal brain development. Fragile X patients don’t make this crucial protein and, as a result, suffer from learning disabilities, cognitive impairment and other problems.

While studying a different protein that is central to nonsense-mediated mRNA decay (NMD) – a cellular quality-control mechanism that plays a role in both healthy and disease states – scientists in the laboratory of Lynne Maquat, Ph.D. found that NMD is overactive in Fragile X patients. Maquat, the director of the Center for RNA Biology at the University of Rochester, discovered NMD.

Maquat and Research Assistant Professor Tatsuaki Kurosaki believe that further study of NMD in Fragile X syndrome will provide new insights into the cause of the disease and aid in the development of previously unforeseen and effective treatment strategies. Fortunately, there are already several drugs on the market that have been shown to dampen NMD that could be repurposed to treat individuals with Fragile X.

According to the Centers for Disease Control and Prevention, the exact number of people who have Fragile X syndrome is unknown, but it has been estimated that about 1 in 5,000 males are born with the disorder. Fragile X is the most common known cause of inherited intellectual disability and autism.