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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.
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