Rett Syndrome Gene Dysfunction Redefined
Thursday, October 3, 2013 - 11:30
in Biology & Nature
Whitehead Institute researchers have discovered that the protein product of the gene MECP2, which is mutated in about 95% of Rett syndrome patients, is a global activator of neuronal gene expression. Mutations in the protein can cause decreased gene transcription, reduced protein synthesis, and severe defects in the AKT/mTOR signaling pathway.