Rett Syndrome Protein: Difference between revisions
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Rett Syndrome is a gradual neurodevelopmental disorder effected 1 in 10,000 to 15,000 females. Patients with Rett Syndrome typically develop normally until around 6 to 8 months of age. At this time the patient begins to go through a period of regression losing previously acquired skills. After this period of regression, most patients are able to become stable and survive into mid-adulthood. | Rett Syndrome is a gradual neurodevelopmental disorder effected 1 in 10,000 to 15,000 females. Patients with Rett Syndrome typically develop normally until around 6 to 8 months of age. At this time the patient begins to go through a period of regression losing previously acquired skills. After this period of regression, most patients are able to become stable and survive into mid-adulthood. | ||
As many other disorders are, MeCP2 is an X linked dominant trait. A mutation within this protein is the most common cause of Rett Syndrome. Therefore, females that are heterozygous are able to survive with the mutation within MeCP2 due to X inactivation. Males on the other hand, are typically unable to survive, or have severely shortened lifespan. The mutation that occurs within the MeCP2 protein could be a missense, nonsense, insertion, deletion, or any other genetic change within the gene or protein. T158M, which is the most common missense mutation causing Rett Syndrome by abolishing DNA binding because it disrupts this ASX-ST motif. Another well-known Rett inducing mutation, R106W, disrupts the ASX-ST motif by stabilizing hydrogen bonds between Arg 106 and Thr 158 and Val 159. These errors in MeCP2 result in loss of purposeful hand movements, slowed brain and head growth, gait abnormalities, and mental retardation. In addition, most Rett syndrome patients experience seizures, breathing irregularities, scoliosis, and an abnormal cardiac cycle. | As many other disorders are, MeCP2 is an X linked dominant trait. A mutation within this protein is the most common cause of Rett Syndrome. Therefore, females that are heterozygous are able to survive with the mutation within MeCP2 due to X inactivation. Males on the other hand, are typically unable to survive, or have severely shortened lifespan. The mutation that occurs within the MeCP2 protein could be a missense, nonsense, insertion, deletion, or any other genetic change within the gene or protein. T158M, which is the most common missense mutation causing Rett Syndrome by abolishing DNA binding because it disrupts this ASX-ST motif. Another well-known Rett inducing mutation, R106W, disrupts the ASX-ST motif by stabilizing hydrogen bonds between Arg 106 and Thr 158 and Val 159. These errors in MeCP2 result in loss of purposeful hand movements, slowed brain and head growth, gait abnormalities, and mental retardation. In addition, most Rett syndrome patients experience seizures, breathing irregularities, scoliosis, and an abnormal cardiac cycle. | ||
The primary locations which mutations causing the major symptoms in Rett Syndrome are: <scene name='81/814056/Work_of_art/1'>R106, R133, T158, R168, R255, R270, R294, and R306</scene>. | The primary locations which mutations causing the major symptoms in Rett Syndrome are: <scene name='81/814056/Work_of_art/1'>R106, R133, T158, R168, R255, R270, R294, and R306</scene>. Most of these mutation all occur within the MBD region of MeCP2.3 <ref name="two">Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature genetics. https://www.ncbi.nlm.nih.gov/pubmed/10508514/. Published October 1999. Accessed March 8, 2019.</ref> <ref name="Na">Na ES, Monteggia LM. The role of MeCP2 in CNS development and function. Hormones and behavior. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077534/. Published March 2011. Accessed March 20, 2019.</ref> <ref name="One">Marchetto M, Carromeu C, Acab A, et al. A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells. Science Direct . https://www.sciencedirect.com/science/article/pii/S0092867410011864?via=ihub. Published November 12, 2010. Accessed March 10, 2019.</ref> | ||
== References == | == References == | ||
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