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Regulation of nonsense-mediated mRNA decay in neural development and disease

Paul Jongseo Lee1,2, Suzhou Yang1,2, Yu Sun1

  • 1Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA.

Journal of Molecular Cell Biology
|March 30, 2021
PubMed

Insights

Nonsense-mediated mRNA decay (NMD) is a crucial quality control and gene regulation pathway. Its dysregulation is increasingly linked to developmental disorders and neurodegenerative diseases, highlighting its importance in the central nervous system.

Area of Science:

  • Molecular Biology
  • Genetics
  • Neuroscience

Background:

  • Eukaryotes utilize mRNA surveillance to eliminate aberrant transcripts.
  • Nonsense-mediated mRNA decay (NMD) acts as both a quality control and gene regulation mechanism.
  • The organismal-level functions and regulatory scope of NMD remain incompletely understood.

Purpose of the Study:

  • To review the biochemical and genetic evidence for NMD's role in development and physiology.
  • To explore the emerging role of NMD dysregulation in neurodegenerative diseases.
  • To highlight the critical involvement of NMD in the central nervous system.

Main Methods:

  • Literature review of biochemical and genetic studies.
  • Analysis of evidence on NMD's developmental regulation.
  • Examination of NMD's physiological functions and links to disease.

Main Results:

  • NMD targets both aberrant and physiological mRNAs.
  • Mutations in NMD factors are associated with developmental and neurological syndromes.
  • NMD plays a critical role in the central nervous system.

Conclusions:

  • NMD is essential for normal development and neurological function.
  • Dysregulation of NMD is implicated in neurodegenerative conditions.
  • Further research into NMD's functions and dysregulation is warranted.
Keywords:
RNA metabolismamyotrophic lateral sclerosisfrontal temporal dementiamRNA translationneurodegenerationneurodevelopmentnonsense-mediated mRNA decay

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