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Induction of Translational Readthrough on Protein Tyrosine Phosphatases Targeted by Premature Termination Codon

Leire Torices1, Caroline E Nunes-Xavier1,2, Janire Mingo1

  • 1Biobizkaia Health Research Institute, Barakaldo, Spain.

Methods in Molecular Biology (Clifton, N.J.)
|December 26, 2023
PubMed

Insights

Premature termination codons (PTCs) cause disease by creating faulty proteins. This study explores methods to analyze PTCs in protein tyrosine phosphatase genes and induce readthrough to restore full protein function for therapeutic benefit.

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Nonsense mutations creating premature termination codons (PTCs) lead to truncated, non-functional proteins, causing various genetic diseases and cancers.
  • Protein tyrosine phosphatases (PTPs), including the tumor suppressor PTEN, are frequently affected by PTCs, highlighting their importance in disease pathology.

Purpose of the Study:

  • To develop and present methodologies for analyzing the distribution and frequency of pathogenic PTCs within PTP genes.
  • To summarize laboratory protocols for studying induced translational readthrough to restore PTP function in cellular models.

Main Methods:

  • In silico analysis of PTC distribution and frequency in PTP genes.
  • Laboratory protocols for studying induced translational readthrough in cellular models.

Main Results:

  • Methodologies for in silico analysis of PTCs in PTP genes were established.
  • Protocols for studying translational readthrough to restore PTP synthesis were summarized.

Conclusions:

  • Induced translational readthrough offers a potential therapeutic strategy to counteract the effects of PTCs in PTP-related diseases.
  • This work provides tools and protocols for further research into PTCs and translational readthrough therapies for PTP-associated conditions.
Keywords:
LaforinNonsense mutationPTENPremature termination codonProtein translationTranslational readthrough

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