![Investigating Rett Syndrome]()
By disrupting neuronal and brain development, mutations to the MECP2 gene (which codes for the transcription factor MECP2) cause the many symptoms that characterize Rett syndrome, an autism spectrum disorder. However, the molecular mechanisms by which MeCP2 controls neuronal function and development aren’t well understood. Michael Brenowitz, Ph.D., has found that shifts in ion types and levels alters the ability of native and defective versions of MECP2 protein to bind to DNA. The National Institute of General Medical Sciences has awarded Dr. Brenowitz a four-year, $1.3 million grant to study MECP2’s binding properties. He and his colleagues will identify and characterize the DNA sequences and modifications that influence MeCP2’s ability to recognize and attach strongly to binding sites on genes. They will also determine the structure of MeCP2 bound to DNA and analyze how MeCP2 competes with other DNA-binding proteins. The results may lead to strategies for treating Rett syndrome by stabilizing defective MeCP2’s gene interactions. Dr. Brenowitz is professor of biochemistry and of molecular pharmacology at Einstein. The studies that led to this project were supported by awards from Einstein’s Rose F. Kennedy Intellectual and Developmental Disabilities Research Center and Rettsyndrome.org.(1R01GM129350-01)
Posted on: Tuesday, July 24, 2018