Brain :: Scientists identify fundamental brain defect, probable drug target in fragile X syndrome
Scientists have discovered how the gene mutation responsible for fragile X syndrome — the most common inherited form of mental retardation — alters the way brain cells communicate. In neurons cultured from laboratory rats, the scientists also were able to reverse the effects of the mutation using a drug targeted to the specific site in an upstream pathway of the defect. The finding could lead to the development of human therapies for this previously untreatable condition.