NIH R01 · 2025
Investigating mitochondrial dysfunction in human astrocytes with RTT-causing MECP2 mutations
Summary Mutations in the X-linked gene, methyl-CpG binding protein 2 (MECP2), underlie a wide range of neuropsychiatric disorders, most commonly Rett syndrome (RTT), a severe neurodevelopmental disorder. Despite numerous studies, why the loss of MeCP2 function results in RTT remains largely obscure, and it represents a major challenge from both basic biological and therapeutic standpoints. Our previous studies, based on mouse models, advanced the knowledge of the disease and the specific cell types involved in RTT neuropathology. We showed that mutant glia, specifically astrocytes, are an integral part of RTT and that healthy astrocytes can rescue many aspects of the disease. However, mouse…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.