Abstract：
Accurate pre-mRNA splicing is essential for proper protein translation; however, aberrant splicing is commonly observed in the context of cancer and genetic disorders. Notably, in genetic diseases, these splicing abnormalities often play a pivotal role. Substantial challenges persist in accurately identifying and classifying disease-induced aberrant splicing, as well as in development of targeted therapeutic strategies. In this review, we examine prevalent forms of aberrant splicing and explore potential therapeutic approaches aimed at addressing these splicing-related diseases. This summary contributes to a deeper understanding of the complexities about aberrant splicing and provide a foundation for the development of effective therapeutic interventions in the field of genetic disorders and cancer.
摘要：
准确的前mRNA剪接对于正确的蛋白质翻译至关重要；然而，异常剪接通常在癌症和遗传疾病的背景下观察到。值得注意的是,在遗传疾病中，这些剪接异常往往起着举足轻重的作用。在准确识别和分类疾病诱导的异常剪接方面存在大量挑战，以及制定有针对性的治疗策略。在这次审查中,我们研究了异常剪接的普遍形式，并探索了旨在解决这些剪接相关疾病的潜在治疗方法。这一总结有助于更深入地理解异常剪接的复杂性，并为在遗传疾病和癌症领域开发有效的治疗干预措施提供了基础。
