Rett Syndrome – Chapter 12: Molecular Complexities of MeCP2 Function in Rett Syndrome (ebook)


Chapter 12 – Molecular Complexities of MeCP2 Function in Rett Syndrome

As a methylated DNA binding protein, MeCP2 serves as a link between epigenetic signals and the gene expression changes they encode. The MeCP2 protein is expressed in tissues throughout the body but the highest levels are found in the brain. MeCP2 protein levels increase over the course of central nervous system (CNS) development and maturation and disruption of MeCP2 expression leads to defects in neuronal maturation. RTT primarily affects girls who are apparently normal at birth, but by 6‒18 months of age undergo a transient regression of language and motor milestones, followed by a period where hand strerotypies and autistic features are observed. Mouse models of RTT have recapitulated the major deficits of RTT and restoration of MeCP2 in the mouse is sufficient to ameliorate symptoms. These studies have demonstrated that MeCP2 is required for normal brain development and function. How MeCP2 acts in normal brain development and function will be the topic of this chapter.

About the book

Among the vast body of literature that has grown around Rett syndrome, this volume is the first to be aimed at both clinicians and researchers. It presents a comprehensive overview of the disorder and examines the areas where gaps in knowledge are most significant. Rett Syndrome is intended to be a guide for both initial examination and in-depth study of the disorder. It is a practical text for the physician approaching the disorder for the first time and a valuable reference resource for the specialist or researcher.