Rett Syndrome Research Paper

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Approximately 1 in every 10,000 infants in the United States is affected with Rett syndrome (RTT), an X-linked neurodevelopmental disease. (Jin, Chen, & Xiao, 2017). Nearly all RTT patients are girls as the mutation on the male’s single X-chromosome tends to be prenatally lethal. The disorder was first described by Andreas Rett in 1966 and is characterized by apparent normal development for the first six to eighteen months of life, followed by the loss of intellectual functioning, acquired fine and gross motor skills, and the ability to engage in social interaction (Krishnan, Krishnan, Connors, Choy, Page, Peti, Van Aiest, Shea, & Tonks, 2015). Other clinical manifestations include seizures, disturbed breathing patterns with periodic…show more content…
During embryogenesis, MeCP2 levels are relatively low in the brain, however, in the postnatal period of neural development, a progressive increase in expression is seen from deep cortical layers to the superficial layers of the brain (Sala & Pizzorusso, 2013). MeCP2’s ability to bind DNA sequences methylated at cytosine 5’CpG and its high affinity for AT-rich DNA sequences allows it to compact chromatin and impact the ability of other nuclear proteins to interact with DNA (Pohodich & Zoghbi, 2015). Accordingly, MeCP2 function has been shown as a primary regulator of neurogenesis modulation and synaptic development, as well as intricately involved in neuronal function and maintenance (Jin, et al., 2017). In various MeCP2-deficient models, neurons displayed a decreased quantity of axons and dendrites along with reduced cortical neurite complexity (Jin, et al., 2017). Likewise, in vitro, MeCP2-deficient stem cells exhibited impaired neural differentiation and more rapid senescence compared to controls, thereby confirming the crucial role of MeCP2 in corticogenesis and neuronal maturation (Jin, et al., 2017). Almost all cases (99.5%) of RTT result from a de novo mutation of the MeCP2 gene which is located within Xq28 (Pohodich & Zoghbi, 2015). The remaining 0.5% of cases are familial where the mutation is inherited from the mother with germline mosaicism or favorable X-chromosome inactivation that results in her being
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