Topic: MECP2

Rett syndrome, MECP2 and therapeutic strategies

The development of the iPS cell technology has revolutionized our ability to study development and diseases in defined in vitro cell culture systems. The talk will focus on Rett Syndrome and discuss two topics: (i) the use of gene editing as an approach to therapy and (ii) the role of MECP2 in gene expression (i) The mutation of the X-linked MECP2 gene is causative for the disease. In a female patient, every cell has a wt copy that is, however, in 50% of the cells located on the inactive X chromosome. We have used epigenetic gene editing tools to activate the wt MECP2 allele on the inactive X chromosome. (ii) MECP2 is thought to act as repressor of gene expression. I will present data which show that MECP2 binds to Pol II and acts as an activator for thousands of genes. The target genes are significantly enriched for Autism related genes. Our data challenge the established model of MECP2’s role in gene expression and suggest novel therapeutic approaches.

Hippocampal GABAergic dysfunction in MeCP2 -/Y mice

MeCP2 controls drug addiction differently depending on cell type in the nucleus accumbens

pharmacological stimulation of the serotonin receptor 7 rescues fear generalization in a ptsd mouse model carrying a truncated form of mecp2

Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome : Effect on genes expression and genotype phenotype correlation