New insight into the protein mutations that cause Rett syndrome

Working model for normal MeCP2 function on chromatin and its dysregulation in disease. Credit: Nature Structural & Molecular Biology (2024). DOI: 10.1038/s41594-024-01373-9 One particular protein lies at the heart of brain development. A master regulator of gene expression, it’s abundantly present in neurons, and its dysfunction underlies Rett syndrome, a neurological disorder that could lead to severe cognitive, motor, and communication impairments in young girls. Yet scientists understand little about how this essential protein does its crucial work at the molecular level. “People have been studying this protein for decades without a clear consensus on what it is doing, where Read More