Huntington's disease (HD) is an inherited neurodegenerative disorder caused by an expanded stretch of CAG trinucleotide repeats in HTT gene that results in neuronal dysfunction and death. The HD induced pluripotent stem cell model from fibroblasts harbors different CAG repeats according to demand, then differentiate into neurons , provides a platform to explore disease mechanisms in HD
| Specifications | |
|---|---|
| Organ System | Central Nervous System |
| Disease | Huntington's Disease (HD) |
| Target Gene | HTT |
| Gene Function | Encodes an expanded polyglutamine stretch near the N-terminus of the 350-kDa huntingtin (HTT) protein |
| Mutation | CAG repeats(copy number varies by patients, >36 CAG repeats is considered a pathological threshold) |
| Phenotype | Abnormal vesicle recycling, loss of signaling by brain-derived neurotrophic factor (BDNF), excitotoxicity, perturbation of Ca2+ signaling, decreases in intracellular ATP, alterations of gene transcription, inhibition of protein clearance pathways, mitochondrial and metabolic disturbances, and ultimately cell death |
| Source | Fibroblasts |
| Cellular Assays | Immunocytochemistry, Western Blotting, Cell Cluster Formation Assay |
For Research Use Only. Not For Clinical Use.
