AI Article Synopsis
- The discovery of polyglutamine repeats in diseases like SBMA set the stage for understanding similar mutations in Huntington's disease and other spinocerebellar ataxias over the last 20 years.
- These diseases share common features that indicate similar mechanisms of neurodegeneration and brain region damage.
- The review explores key pathogenic pathways involved in these diseases and suggests potential treatment targets focused on protein processing, shuttling, aggregation, mitochondrial issues, and clearing misfolded proteins.
Article Abstract
The history of polyglutamine diseases dates back approximately 20 years to the discovery of a polyglutamine repeat in the androgen receptor of SBMA followed by the identification of similar expansion mutations in Huntington's disease, SCA1, DRPLA, and the other spinocerebellar ataxias. This common molecular feature of polyglutamine diseases suggests shared mechanisms in disease pathology and neurodegeneration of disease specific brain regions. In this review, we discuss the main pathogenic pathways including proteolytic processing, nuclear shuttling and aggregation, mitochondrial dysfunction, and clearance of misfolded polyglutamine proteins and point out possible targets for treatment.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189765 | PMC |
| http://dx.doi.org/10.1155/2014/701758 | DOI Listing |
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