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MIT Researchers Uncover New Mechanisms in Rett Syndrome, Launch Open-Source Database

MIT Researchers Uncover New Mechanisms in Rett Syndrome, Launch Open-Source Database

MIT researchers, led by postdoc Liu Yi, have unveiled a groundbreaking mechanism in Rett Syndrome, a rare neurological disorder. Their work focuses on MECP2, a gene essential for brain development, with mutations leading to severe cognitive and motor impairments.

Liu Yi and his team have created a comprehensive epigenetic map of MECP2, revealing its direct interaction with over 4000 genes, many of which are associated with autism. This interaction involves MECP2 binding with RNA polymerase II, a crucial enzyme in gene transcription. Mutations in MECP2 disrupt this binding, impairing gene expression and triggering Rett Syndrome.

The team has also developed a neural model using CRISPR technology, accelerating the study of MECP2's role in neurons. Their findings suggest potential therapeutic targets for Rett Syndrome, focusing on restoring MECP2's function.

Liu Yi has further democratized access to their research by launching MECP2 NeuroAtlas, an open-source database. This resource allows researchers worldwide to explore MECP2's impact on gene expression and chromosomal activity, fostering collaborative advancements in treating Rett Syndrome.

This research not only deepens our understanding of Rett Syndrome but also underscores the transformative potential of interdisciplinary approaches in medical science. By integrating genetics, epigenetics, and neurobiology, Liu Yi's work paves the way for targeted therapies and a deeper comprehension of complex neurological disorders.

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