Alternative splicing dysregulation in CAG repeat expansion diseases
Year: 2026
Type: review
Abstract: Alternative splicing of RNA is a highly regulated process that increases the complexity of gene expression, with disruption of splicing leading to significant disruption of cellular function and, ultimately, disease. This spliceopathy is exemplified by myotonic dystrophy type 1, a CTG repeat expansion disease, where dysregulation of alternative splicing drives core disease symptomatology. Recent studies across murine- and patient-derived disease models have demonstrated that similar alternative splicing changes are prevalent in CAG repeat expansion diseases, including Huntington's disease and multiple spinocerebellar ataxias. This review summarizes current knowledge on alternative splicing dysregulation in CAG repeat expansion diseases, highlights potentially disrupted genes and pathways, and discusses mechanisms through which alternative splicing dysregulation may contribute to disease pathogenesis and patient symptomatology.
Source: Trends in Neurosciences
Authors: Asmer Aliyeva, John D. Cleary, Hannah K. Shorrock, J. Andrew Berglund
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $7,030
Awards: Mechanistic Basis for Non-Canonical Translation in Neurological Disease, G9000165964, Design, Synthesis and Efficacy of New Small Molecule Therapeutics to Impede Myotonic Dystrophy, Preparing for Therapeutics across the Spectrum of Myotonic Dystrophy, Alternative Splicing and Development of Small Molecule Therapeutics in CAG Expansion Spinocerebellar Ataxias
OpenAlex ID: W7203471814