Towards understanding and treatment of MECP2-related disorders

Mutations in the MECP2 gene are responsible for two autism spectrum disorders: a loss of function causes Rett syndrome, while over-expression causes MECP2 duplication syndrome. As either too little or too much MECP2 protein leads to profound intellectual disability, understanding how this protein contributes to brain function is a priority. One hypothesis is that is that MECP2 is a multifunctional hub protein implicated in diverse cellular pathways, while a simpler alternative is that MECP2 is primarily a transcriptional repressor that binds methylated DNA and recruits a co-repressor complex. Professor Bird will investigate these hypotheses with experiments that will identify both the determinants of MECP2 binding to chromatin and how varying levels of MECP2 affect gene expression.