Team describes MECP2 gene therapy approach for Rett syndrome

In a paper published in Nature, researchers at the University of Edinburgh and colleagues showed that adeno-associated virus (AAV) delivery of a shortened version of the methyl CpG binding protein 2 (MECP2; RTT) gene containing only two key domains of the protein restored Rett syndrome-like neurological defects in mice. The strategy could be used as gene therapy to treat Rett syndrome, a risk factor for autism.

While loss-of-function mutations in MECP2 have been identified as causing Rett syndrome, the regions that are lost and the specific functions of the affected domains are not well understood. MECP2 reportedly interacts with more than 40 binding partners to coordinate gene regulation processes, but studies suggest that Rett syndrome-causing missense mutations are concentrated in the methyl CpG binding domain (MBD) and NCoR/SMRT interaction domain (NID)...