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Obscurin: A multitasking giant in the fight against cancer

Talia Guardia1, Matthew Eason1, Aikaterini Kontrogianni-Konstantopoulos2

  • 1Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.

Biochimica Et Biophysica Acta. Reviews on Cancer
|May 20, 2021
PubMed

Insights

Giant obscurins, encoded by OBSCN, are crucial in cancer. This study analyzes OBSCN mutations in 16 cancers, highlighting their tumor suppressor role in breast cancer and potential regulation by long non-coding RNA.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Giant obscurins (encoded by OBSCN) are large cytoskeletal proteins.
  • Initially known for roles in striated muscle, they are now recognized for their involvement in cancer.
  • OBSCN mutations and their functional impact across various cancers are under investigation.

Purpose of the Study:

  • To provide a comprehensive overview of OBSCN mutations in 16 cancer types.
  • To summarize functional evidence of obscurins as tumor suppressors in breast cancer.
  • To investigate the in silico mutational profile and epigenetic regulation of OBSCN, including the role of OBSCN-Antisense-RNA-1.

Main Methods:

  • Bioinformatic analysis of OBSCN mutations across 16 cancer types using public datasets.
  • In silico analysis of OBSCN's mutational profile and epigenetic alterations.
  • Review of functional studies on obscurins in breast cancer.
  • Characterization of OBSCN-Antisense-RNA-1, a long non-coding RNA.

Main Results:

  • OBSCN mutations are present across diverse cancer types.
  • Functional studies support obscurins' role as potent tumor suppressors in breast cancer.
  • In silico analysis revealed specific mutational patterns and epigenetic modifications of OBSCN.
  • The OBSCN-Antisense-RNA-1 gene was formally described, suggesting a role in modulating OBSCN expression.

Conclusions:

  • Giant obscurins play a significant role in cancer development and progression.
  • OBSCN exhibits tumor-suppressive functions, particularly in breast cancer.
  • Novel mechanisms of OBSCN dysregulation involving mutations and epigenetic factors, including long non-coding RNAs, are identified and warrant further research.
Keywords:
(hyper)methylationBreast cancerEpigenetic regulationLong non-coding RNAMetastasisMutational analysisOBSCNOBSCN Antisense RNA 1ObscurinTumor suppressorTumorigenesis

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