[Source: Medical News Today]
Researchers have furthered their knowledge of fragile X syndrome – the most common known cause of inherited intellectual disability – thanks to a patient with a mutation in a specific gene exhibiting some of the disorder’s symptoms.
The new insight given by the study could have an impact on the development of treatments for fragile X syndrome.
Usually, fragile X syndrome is caused by the disabling of the fragile X mental retardation (FMR1) gene responsible for creating a protein – fragile X mental retardation protein (FMRP). FMRP is used to regulate electrical signals in the brain.
However, the patient examined in the study had only a single error in this gene and exhibited just two of the primary symptoms of the disorder. As a result, the researchers were able to analyze a hitherto unknown role for the gene.
“This individual case has allowed us to separate two independent functions of the fragile X protein in the brain,” says co-senior author Prof. Vitaly A. Klyachko, associate professor of cell biology and physiology at Washington University School of Medicine in St. Louis, MO.