Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.

ABSTRACT: Copy number variations have been frequently associated with developmental delay, intellectual disability and autism spectrum disorders. MECP2 duplication syndrome is one of the most common genomic rearrangements in males and is characterized by autism, intellectual disability, motor dysfunction, anxiety, epilepsy, recurrent respiratory tract infections and early death. The broad range of deficits caused by methyl-CpG-binding protein 2 (MeCP2) overexpression poses a daunting challenge to traditional biochemical-pathway-based therapeutic approaches. Accordingly, we sought strategies that directly target MeCP2 and are amenable to translation into clinical therapy. The first question that we addressed was whether the neurological dysfunction is reversible after symptoms set in. Reversal of phe

SUBMITTER: Sztainberg Y 

PROVIDER: S-EPMC4839300 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature