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MIT Researchers Uncover New Insights into Rett Syndrome's Genetic Mechanisms

MIT Researchers Uncover New Insights into Rett Syndrome's Genetic Mechanisms

MIT researchers have unveiled a groundbreaking understanding of Rett Syndrome, a rare neurological disorder. Led by postdoctoral researcher Liu Yi, the team has detailed how the MECP2 protein, when mutated, disrupts gene transcription in neurons, leading to the syndrome's debilitating effects.

The study reveals that MECP2, a crucial transcription activator, binds directly to over 4000 genes, many linked to autism. Mutations weaken MECP2's interaction with RNA polymerase II, impeding gene expression and causing neuronal dysfunction.

Liu Yi and colleagues have created a comprehensive epigenetic map of MECP2, identifying specific genes and pathways affected by its mutations. This map, accessible via the MECP2 NeuroAtlas website, offers a valuable resource for researchers aiming to develop targeted therapies.

The team's findings not only deepen our understanding of Rett Syndrome but also highlight the potential for novel treatments by targeting the MECP2-RNA polymerase II interaction. This research marks a significant stride in unraveling the complexities of neurological disorders and paves the way for future therapeutic advancements.

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