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Alternative splicing dysregulation in CAG repeat expansion diseases
Asmer Aliyeva1, John D Cleary2, Hannah K Shorrock1
1RNA Institute, College of Arts and Sciences, University at Albany, State University of New York, Albany, NY 12222, USA; Department of Biological Sciences, College of Arts and Sciences, University at Albany, State University of New York, Albany, NY 12222, USA.
Trends in Neurosciences
|August 13, 2026
Summary
Alternative splicing disruptions cause diseases like myotonic dystrophy type 1. Similar splicing changes are found in CAG repeat expansion diseases, impacting cellular function and patient symptoms.
Area of Science:
- Molecular Biology
- Genetics
- Neuroscience
Background:
- Alternative splicing of RNA is crucial for gene expression complexity.
- Dysregulation of splicing, termed spliceopathy, leads to cellular dysfunction and disease.
- Myotonic dystrophy type 1 serves as a key example of spliceopathy driven by CTG repeat expansion.
Purpose of the Study:
- To review alternative splicing dysregulation in CAG repeat expansion diseases.
- To identify disrupted genes and pathways in these conditions.
- To discuss the mechanisms linking splicing changes to disease pathogenesis.
Main Methods:
- Review of recent studies on murine and patient-derived models.
- Analysis of alternative splicing changes in CAG repeat expansion diseases.
- Synthesis of current knowledge on spliceopathy mechanisms.
Main Results:
- Alternative splicing alterations are prevalent in CAG repeat expansion diseases.
- Huntington's disease and spinocerebellar ataxias exhibit similar splicing changes.
- Specific disrupted genes and pathways are implicated in disease.
Conclusions:
- Alternative splicing dysregulation is a common feature of CAG repeat expansion diseases.
- Understanding these splicing changes is vital for elucidating disease mechanisms.
- This knowledge may inform therapeutic strategies for these neurological disorders.
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