Novel Approach That Stimulates Cells’ DNA Repair Mechanisms May Combat Fragile X Syndrome

New research has identified a potential method for treating fragile X syndrome (FXS), a leading cause of autism spectrum disorders (ASDs) that is characterized by an inherited repeat of certain nucleotides within the DNA sequence of the FMR1 gene. The work, which was conducted by investigators at Massachusetts General Hospital (MGH), has been published in the journal Cell. The article is titled “Site-Specific R-Loops Induce CGG Repeat Contraction and Fragile X Gene Reactivation.” FXS is caused by an expansion of the trinucleotide repeat CGG within FMR1, which stands for fragile X messenger ribonucleoprotein 1. FMR1 makes a protein called FMRP that is needed for brain development, but the CGG expansion in people born with FXS leads to reduced expression of this protein, leading to developmental delays, learning disabilities, and social and behavior problems. The disorder affects 1 in 3,000 boys and 1 in 6,000 girls.
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