| Popis: |
Methyl-CpG binding protein 2 (MeCP2) is a member of the methyl-CpG binding domain family of nuclear proteins with binding affinity for methylated deoxyribonucleic acid. Mutations in the X-linked MECP2 gene are the monogenic origin of Rett syndrome (RTT), a neurological disorder that is the most common cause of intellectual disability in young girls. After a period of normal development, patients lose learned language and motor skills and develop numerous symptoms including seizures, repetitive hand movements, respiratory irregularities, and autistic-like features. The pathogenic mechanisms by which dysfunction of the ubiquitously expressed MeCP2 leads to the unique symptoms of RTT have been intensely studied for 15 years. This chapter highlights the still-evolving concept of MeCP2 as a multifunctional protein and our current understanding of the molecular mechanisms and synaptic dysfunction underlying RTT through the study of Mecp2 mouse models. |
