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Genetically modified rodent models of SCA17.
Yiting Cui1,2, Su Yang2, Xiao-Jiang Li2
1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Journal of Neuroscience Research
|November 19, 2016
Summary
Spinocerebellar ataxia type 17 (SCA17) research utilizes rodent models to understand TBP gene mutations. These models reveal how mutant TBP protein and CAG repeat lengths influence disease pathology and phenotypes.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Spinocerebellar ataxia type 17 (SCA17) is an autosomal dominant cerebellar ataxia (ADCA) presenting with ataxia, dementia, and psychiatric symptoms.
- SCA17 is caused by a CAG repeat expansion in the TATA-box binding protein (TBP) gene, identified in 1999 and confirmed in 2001.
Purpose of the Study:
- To review and compare established SCA17 rodent models (knock-in and transgenic mice and rats).
- To analyze the relationship between transgene nature, expression, and observed phenotypical features in SCA17 models.
- To elucidate how mutant TBP protein causes differential pathological events in SCA17.
Main Methods:
- Review of existing literature on SCA17 rodent models.
- Comparison of transgene characteristics and expression patterns across different models.
- Analysis of reported phenotypical features and pathological changes associated with mutant TBP.
Main Results:
- Established SCA17 rodent models exhibit varied pathological changes and phenotypes.
- These variations correlate with mutant TBP protein expression and CAG repeat lengths.
- Different models provide insights into the specific mechanisms of TBP-mediated neurodegeneration.
Conclusions:
- Rodent models are crucial for studying SCA17 pathogenesis and phenotypic variability.
- Understanding these models aids in dissecting the role of mutant TBP in disease.
- Further research directions are proposed based on current model limitations and findings.
