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Nonsense-Mediated mRNA Decay in Human Health and Diseases: Current Understanding, Regulatory Mechanisms and Future

Amrita Behera1, Gagan Kumar Panigrahi2, Annapurna Sahoo3

  • 1Department of Zoology, School of Applied Sciences, Centurion University of Technology and Management, Jatni, Khordha, Odisha, India.

Molecular Biotechnology
|September 12, 2024
PubMed

Insights

Nonsense-mediated mRNA decay (NMD) surveillance eliminates faulty transcripts with premature stop codons. Dysregulation of NMD impacts gene expression, leading to genetic diseases and complex roles in cancer development and treatment.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cellular Biology

Background:

  • Nonsense-mediated mRNA decay (NMD) is a crucial eukaryotic surveillance pathway.
  • NMD targets messenger RNA (mRNA) with premature termination codons (PTCs) to maintain transcript quality.
  • It prevents the expression of truncated proteins, thereby regulating gene expression.

Purpose of the Study:

  • To elucidate the multifaceted role of NMD in cellular surveillance and gene regulation.
  • To explore the implications of NMD in genetic diseases and cancer.
  • To highlight the therapeutic potential of modulating NMD pathways.

Main Methods:

  • Analysis of NMD's recognition of aberrant transcripts via 3' UTRs and exon-junction complexes (EJC).
  • Investigation of NMD's dual role in cancer, affecting tumor suppressor and oncoprotein expression.
  • Review of NMD's involvement in alternative splicing and PTC formation.

Main Results:

  • NMD effectively eliminates transcripts with PTCs, preventing truncated protein production.
  • Aberrant NMD activity or escape from surveillance can result in genetic disorders.
  • NMD's role in cancer is context-dependent, either promoting or inhibiting tumor progression.

Conclusions:

  • NMD is a vital quality control mechanism with significant implications for human health.
  • Understanding NMD regulation is key to developing novel therapeutic strategies for genetic diseases and cancer.
  • Targeting NMD offers potential for personalized medicine and aligns with SDG 3 for improved global health.
Keywords:
Alternative splicingCancerMessenger RNANonsense-mediated mRNA decayPre-termination codons

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