[Disturbances of alternative splicing in cancer]

Hanna Wiszomirska1, Agnieszka Piekiełko-Witkowska, Alicja Nauman

  • 1Zakład Biochemii i Biologii Molekularnej, Centrum Medyczne Kształcenia Podyplomowego, Warszawa.

Postepy Biochemii
|January 13, 2012
PubMed

Insights

Alternative splicing, a key RNA modification, can lead to cancer when dysregulated. Aberrant splicing may offer new diagnostic biomarkers and therapeutic targets for cancer treatment.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cancer Research

Context:

  • Pre-messenger RNA (pre-mRNA) splicing is a crucial post-transcriptional modification.
  • The spliceosome complex catalyzes pre-mRNA splicing, enabling the removal of introns and joining of exons.
  • Alternative splicing allows for the generation of diverse messenger RNA (mRNA) and protein isoforms from a single gene.

Purpose:

  • To review the role of splicing disturbances in genes controlling proliferation and metastasis in tumoral transformation.
  • To discuss the potential of abnormally spliced transcripts as diagnostic biomarkers for cancer.
  • To explore the therapeutic applications of targeting aberrant splicing in anticancer strategies.

Summary:

  • Alternative splicing is regulated by cis-acting elements and trans-acting factors, including SR and hnRNP proteins.
  • Mutations in cis elements or altered expression of splicing factors can lead to aberrant pre-mRNA splicing.
  • Dysregulation of splicing in proliferation and metastasis-controlling genes contributes to cancer development.

Impact:

  • Abnormally spliced transcripts may serve as novel diagnostic biomarkers for early cancer detection.
  • Targeting aberrant splicing pathways presents a promising avenue for developing innovative anticancer therapies.
  • Understanding splicing alterations provides insights into cancer progression and potential vulnerabilities.

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