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Alternative Splicing and Isoforms: From Mechanisms to Diseases
Qi Liu1, Leiming Fang1, Chengjun Wu1
1School of Biomedical Engineering, Dalian University of Technology, Dalian 116024, China.
Genes
|March 25, 2022
Summary
Alternative splicing, a process of gene expression, generates diverse proteins. Dysregulation of this process by splicing factors is linked to diseases, prompting interest in therapeutic strategies.
Area of Science:
- Molecular Biology
- Genetics
- Biochemistry
Background:
- Alternative splicing of pre-mRNA enhances proteomic and transcriptomic complexity in a tissue-specific manner.
- Splicing factors regulate alternative splicing, but errors in this regulation are implicated in various diseases.
Purpose of the Study:
- To review the fundamental principles of alternative splicing.
- To illustrate the impact of splicing isoforms on physiological activities using disease examples.
- To summarize current therapeutic strategies targeting RNA splicing.
Main Methods:
- Literature review of alternative splicing mechanisms.
- Analysis of disease-specific splicing isoform effects.
- Compilation of existing therapeutic interventions for splicing modulation.
Main Results:
- Alternative splicing significantly increases protein diversity.
- Aberrant splicing is a key factor in numerous human diseases.
- Targeting RNA splicing presents a promising avenue for drug development.
Conclusions:
- Understanding alternative splicing regulation is crucial for disease intervention.
- Developing drugs that modulate splicing activities offers therapeutic potential.
- This review provides a comprehensive overview of splicing, its disease relevance, and treatment options.
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