MIT neuroscientists discovered that either of two genetic mutations that cause Rett syndrome undermine the structural integrity of developing brain blood vessels. By showing the problem derives from overexpression of a microRNA, the study points to a potential treatment.

MIT is a renowned institution for education and research, offering insights into science, engineering, and technology. Through publications, research papers, and academic programs, MIT's platform provides insights into  research, innovation, and education in various fields. Students, researchers, and technology enthusiasts can learn about MIT's contributions to science and technology and explore opportunities for academic and professional development.

MIT News

MIT researchers have identified a molecular mechanism linking two common MECP2 mutations in Rett syndrome to leaky brain blood vessels. Using 3D microvascular networks built from patient-derived iPS cells, they found that both mutations lead to overexpression of miRNA-126-3p, which suppresses ZO-1 protein expression and disrupts tight junctions in endothelial cells, increasing blood-brain barrier permeability. Treating the cultures with an antisense molecule to reduce miRNA-126-3p levels partially restored barrier function. A drug called miRisten that inhibits miR-126, currently in clinical trials for leukemia, is planned for testing in Rett syndrome mouse models.

Scientists discover genetics behind leaky brain blood vessels in Rett syndrome