Spinocerebellar ataxia (SCA) is a group of hereditary ataxic neurodegenerative disorders without effective treatment or cure. The induced pluripotent stem cell model from fibroblasts harbors 20-23 CAG repeats according in ATXN3 gene, then differentiate into neurons, belongs to subtype SCA3 also konwn as Machado-Joseph disease. SCA3 is is one of nine polyglutamine (polyQ) disorders caused by a CAG expansion mutation within the ATXN3 gene. This disease model provides a platform to explore disease mechanisms in SCA.
| Specifications | |
|---|---|
| Organ System | Central Nervous System |
| Disease | Spinocerebellar Ataxia (SCA) |
| Target Gene | ATXN3 |
| Gene Function | The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. |
| Mutation | CAG expanded repeat (normal 12-44, abnormal 52-86) |
| Phenotype | Expansion of the polyQ tract results in neuronal cytotoxicity, with calpain-dependent proteolysis of the mutant ATXN3, thereby generating expanded polyQ fragments and insoluble aggregates and leading to the formation of inclusions in the nucleus and cytoplasm of neurons, including axonal tracts |
| Source | Fibroblasts |
| Cellular Assays | Western Blot, Karyotype Analysis, FASC, |
For Research Use Only. Not For Clinical Use.
