title: Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options.
abstract: Synaptic communication is highly regulated process of contact between cells allowing information to be stored and modified. Synaptic formation and maturation is the result of interactions between intrinsic genetic/molecular factors and the external environment to establish the communication in the brain. One disorder associated with faulty synapse communication is Rett Syndrome (RTT). RTT is the leading form of severe MR in females, affecting approximately 1:10,000 females worldwide, without predisposition to any particular racial or ethnic group. Mutations inMECP2, the gene encoding methyl-CpG-binding protein-2, have been identified in more than 95% of individuals with RTT. Birth and the milestones of early development appear to be normal in individuals with RTT until approximately 6-18 months when in the subsequent months and years that follows, physical, motor, and social-cognitive development enter a period of regression. The clinical management of these individuals is extremely multifaceted, relying on collaborations of specialists and researchers from many different fields. In this critical literature review, we provide an overview of Rett Syndrome, from patient to pathophysiology with a therapeutic summary of clinical trials in RTT and preclinical studies using mouse and cell models of RTT.
authors.affiliation: Department of Neurobiology, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Chapleau
authors.affiliation: Department of Pediatrics, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
authors.forename: Jane
authors.initials: J
authors.lastname: Lane
authors.affiliation: Biology Department and Neuroscience Program, Agnes Scott College, Decatur, GA 30030.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Larimore
authors.affiliation: Department of Neurobiology, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Neurobiology, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
authors.forename: Lucas
authors.initials: L
authors.lastname: Pozzo-Miller
authors.affiliation: Department of Neurobiology, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA ; Department of Pediatrics, Civitan International Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
authors.forename: Alan K
authors.initials: AK
authors.lastname: Percy
keywords: Clinical Trials; MeCP2; Neurodevelopmental Disorders; Rett Syndrome