Rett syndrome (RTT) is a progressive neurological disorder caused by mutations in the X-linked gene encoding MeCP2 protein, patients undergo apparently normal development until 6–18 months of age, followed by impaired motor function, stagnation and then regression of developmental skills, hypotonia, seizures and autistic behavior. This disease model induced from patients' fibroblasts has a Q244X mutation in MeCP2 gene, and then differentiated into neural progenitor cells (NPCs) and functional neurons, provideing a platform to investigate mechanism or new medical method/drug of Rett Syndrome.
| Specifications | |
|---|---|
| Organ System | Central Nervous System |
| Disease | Rett Syndrome (RTT) |
| Target Gene | MeCP2 |
| Gene Function | Encoding protein MeCP2, which is a chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair, mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. |
| Mutation | Q244X |
| Phenotype | A reduced number of dendritic spines and synapses in neurons, also detected an altered frequency of intracellular calcium spikes and electrophysiological defects in RTT-derived neuronal networks |
| Source | Fibroblasts |
| Cellular Assays | Immunocytochemistry, Cell cycle analysis, Karyotyping and DNA fingerprinting, DNA and RNA FISH, Western blot analysis, Electrophysiology |
For Research Use Only. Not For Clinical Use.
