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Human Neuron Model of Rett's Syndrome

Rett Syndrome is a neurodegenerative disorder that affects between 1 in 10,000 and 1 in 15,000 females, and is lethal in males. Symptoms of Rett syndrome include loss of speech, developmental delay, abnormal gait, breathing dysfunction, and seizures. While there is no cure for Rett Syndrome, this disorder is known to be caused by a mutation of the gene that codes for methyl CpG binding protein 2 (MeCP2). Much research has been done on the disorder and the mutated gene, but very little has been in human models. This research utilizes human induced pluripotent stem cells (hIPSCs), which have been modified to contain mutated MeCP2 genes through CRISPR technology, in order to examine the key differences between healthy human excitatory neurons (wild type), and human neurons affected by the mutation that causes Rett syndrome. Although more data is necessary, preliminary results are consistent with the current research, and shows Rett Syndrome neurons are hyperactive in the absence of stimulus compare to wild type neurons, and also influx more calcium than wild type do when exposed to the same stimulus. These findings help confirm pilot findings in human models and add to the growing field of knowledge about the mechanism that causes Rett Syndrome. Further studies that build on this research will hopefully one day lead to a treatment or cure for this disorder.