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Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
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Therapeutic strategies for aberrant splicing in cancer and genetic disorders

Wenhua Shi1,2,3, Jingqun Tang2,4, Juanjuan Xiang1,2,3

  • 1Cancer Research Institute, School of Basic Medical Science, Central South University, Changsha, Hunan, China.

Clinical Genetics
|January 2, 2024
PubMed

Insights

Aberrant pre-mRNA splicing contributes to genetic disorders and cancer. This review explores splicing errors and potential therapies for these complex diseases.

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Accurate pre-mRNA splicing is crucial for protein translation.
  • Aberrant splicing is a hallmark of genetic disorders and cancer, often playing a pivotal role in disease pathogenesis.
  • Current challenges include accurately identifying and classifying disease-induced splicing defects and developing targeted therapies.

Purpose of the Study:

  • To review prevalent forms of aberrant splicing.
  • To explore potential therapeutic strategies for splicing-related diseases.
  • To deepen the understanding of aberrant splicing complexities in genetic disorders and cancer.

Main Methods:

  • Literature review of aberrant splicing mechanisms.
  • Analysis of current therapeutic approaches for splicing disorders.
  • Synthesis of information on genetic diseases and cancer linked to splicing abnormalities.

Main Results:

  • Prevalent forms of aberrant splicing are identified and discussed.
  • Potential therapeutic avenues for splicing-related diseases are explored.
  • The review provides a foundation for understanding splicing defects in disease.

Conclusions:

  • Aberrant splicing is a significant factor in genetic disorders and cancer.
  • Further research into identifying and classifying splicing errors is needed.
  • Development of targeted therapeutic interventions for splicing-related diseases is a key future direction.
Keywords:
aberrant splicinggene therapyrecursive splicingsplicing factor

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