Rett Syndrome as a model to study neurobiology and candidate therapeutics for brain disorders
Daniela Tropea Trinity College (Dublin, Ireland)
Rett Syndrome (RTT) is a neurodevelopmental disorder associated to mutations in the X-linked gene MECP2, which codes for the protein Methyl-CpG binding protein 2. MeCP2 acts mainly a chromatin-binding protein, and determines activation or inhibition of gene expression, depending on its binding co-factors. Mecp2 is also involved in RNA splicing. Although mostly associated to RTT, MECP2 is involved in several other neuropsychiatric and neurological conditions, and its dysregulation (both upregulation and downregulation) has functional consequences. In addition, several cellular phenotypes identified in RTT are present in other brain disorders and treatment that benefit patients with RTT are also effective in other neurodevelopmental disorders. In this seminar I will present the evidence that Mecp2 controls many molecular mechanisms across different brain pathologies and that RTT can be used as a model to uncover the pathophysiology of several disorders.
April 30th 12.00 am