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Rett Syndrome Analysis

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Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene found on the X chromosome; it have been thought that RTT was exclusively found in females, but a limited number of males with RTT have been reported (Renieri et al, 2003). Unlike females, who have two X chromosomes, males only have one X-chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a faulty one, RTT is often fatal to males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is …show more content…

(Okabe, 2012). Microglia are the immune system in the central nervous system (CNS), and act by responding to any injuries and diseases by proliferating, removing cellular debris, and activating a neuroinflammatory response (Lioy et al, 2011). Even in their dormant state, microglia extensively and endlessly scrutinize their cellular surroundings which means that microglia are always in close interaction with their nearby astrocytes and neurons (Noda, 2015). Recently, scientists have hypothesized that in RTT, microglia causes a non-cell autonomous effect in which only genotypically mutant cells exhibit the mutant phenotype (Maezawa & Jin, …show more content…

Reduction in brain and neuronal sizes with an increase in cell density is consistently observed in several brain regions of patients with RTT (Calfa et al, 2015). These areas include the cerebral cortex, hypothalamus and the hippocampal formation (Belichenko et al, 2009). According to Belichenko (2009) dendritic morphology of neurons has been observed in a number of neurodevelopmental disorders, including RTT. An autoradiography done in the frontal cortex and basal ganglia of individuals affected by RTT have shown complex abnormalities in the density of glutamate receptors such as NMDA-(N-methyl-d-aspartate), AMPA-(α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid), kainate- and metabotropic receptors (Blue et al, 1999).The prefrontal cortex of girls who were 2-8-year-old had increased NMDA receptors as compared to 10 year old girls who had reduced NMDA receptors. Receptor density was dependent on age of the patient (Blue et al, 1999). Changes in the neurons, such as decreased dendrites and decreased dendritic spine numbers are observed; particularly, changes in the hippocampal CA1 pyramidal neurons are shown (Chapeau et al, 2012). When compared to an age-matched control, researchers noticed that RTT affected patients had lower dendritic spine density in their

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