The National Institutes of Health awarded a group of researchers at UT Southwestern Medical Center a grant worth $8.7 million to learn more about Fragile X syndrome, which is the most common hereditary cause of mental retardation in boys. It is caused by a mutation in the gene FMR1, on the X chromosome, which causes it to look abnormally narrow or “fragile”. Boys with Fragile X Syndrome have a characteristic physical appearance: protruding ears, hyper-flexible joints, and mental deficiencies such as mood lability and some features of autism. The National Fragile X Foundation estimates 1 out of every 3,600 boys will be born with this genetic disorder. Heading the NIH-funded research are Kimberly Huber, Ph.D., a Professor of Neuroscience, and John Sweeney, Ph.D., a Professor of Psychiatry and Pediatrics, and holder of the Townsend Distinguished Chair in Research on Autism Spectrum Disorders.
Most patients with Fragile X syndrome exhibit sensory oversensitivity, especially towards noise. The two scientists will be working on separate research programs, but will both be attempting to discover and understand what causes this phenomenon. Aside from funding these studies, the five-year grant will also cover collaborators at the University of California, Riverside.
Dr. Huber will be working with Associate Professor Jay Gibson, Ph.D. on a study that will examine brain circuitry in Fragile X mice models. Their study’s goal is to identify the neurological causes of cognitive and mood dysfunctions in Fragile X, in the hopes of contributing to the future discovery of corrective therapies. Drs. Huber and Gibson have spent the last decade learning about the FMR1 mutation in mice models, giving them an extensive understanding of brain circuitry.
While there is still a 1 in 4,000-6,000 chance that a girl will be born with and exhibit the FMR1 mutation, they are more likely to become carriers of the gene, and may potentially pass it on to her offspring — most likely to a son. Austin-based diagnostics company, Asuragen, Inc., published findings from a study of a new diagnostic test called Xpansion Interpreter that offer increased accuracy of predicting a woman’s risk of having a child with Fragile X syndrome.