Researchers have developed a new platform, TurboID, to explore dendritic translation's role in memory formation and its implications for intellectual disorders, identifying 1,000 small proteins produced in dendrites during memory formation. The study highlighted the role of FMRP, a protein linked to Fragile X syndrome, in binding mRNA within dendrites, suggesting a new avenue for understanding intellectual disabilities. The development of dendritic-TurboID technology allows for unprecedentedly detailed analysis of protein synthesis in dendrites, offering potential for broad applications in neuroscience research.
Fragile X syndrome (FXS), the leading form of inherited intellectual disability, has been found to develop before birth due to a deficiency in the protein FMRP, which plays a crucial role in mitochondrial function during prenatal development. Researchers discovered that brain cells damaged by the lack of FMRP can be rescued by enhancing mitochondrial function, offering potential avenues for early intervention and treatment strategies. The study also identified the regulatory role of FMRP on the RACK1 gene, highlighting the importance of prenatal development in FXS and providing a molecular link between FXS and autism spectrum disorder.
Researchers have discovered a potential new treatment for Fragile X Syndrome (FXS), a leading cause of autism spectrum disorders, by contracting the CGG trinucleotide repeat in the FMR1 gene, thereby restoring the essential FMRP protein expression necessary for brain development. The process required the presence of inhibitors of two kinases, MEK and BRAF, to induce repeat contraction and full FMR1 reactivation, effectively reducing the expanded CGG repeats and stimulating the body's own DNA repair mechanisms. The results mark a significant stride towards a potential "one-and-done" treatment for FXS.
A study by the University of California, Riverside, has identified that mutations of the FMR1 gene, which causes Fragile X Syndrome, contribute to premature ovarian failure (POF) due to changes in neurons that regulate reproduction in the brain and ovaries. POF affects about 10% of women and is characterized by an early depletion of ovarian follicles and early menopause. The mutation has been associated with early infertility, due to a 25-fold increased risk of POF, but the reasons were unclear. The researchers found that the mutation alters neurons that regulate reproduction in the brain and ovaries.
