Insights into the cellular and molecular contributions of MeCP2 overexpression to disease pathophysiology

摘要

Rett syndrome (RTT) is a devastating and currently incurable neurodevelopmental disease that primarily affects females. RTT is caused by loss of the X-linked gene methyl-CpG-binding protein 2 (MECP2). The resulting decreases in MeCP2 protein levels lead to symptoms such as developmental regression, intellectual and learning difficulties, stereotyped hand motions, impaired motor skills, loss of language, ataxia, and seizures (Ramocki and Zoghbi, 2008). While there is evidence to suggest that the primary role of MeCP2 is transcriptional repression, it has also been shown to selectively enhance gene expression (Chahrour et al., 2008), and its specific roles in neuronal function remain controversial.