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Related Experiment Videos

High-Throughput Screening for Readthrough Modulators of CFTR PTC Mutations.

Feng Liang1, Haibo Shang1, Nikole J Jordan1

  • 11 CFFT Lab, Cystic Fibrosis Foundation Therapeutics, Lexington, MA, USA.

SLAS Technology
|April 6, 2017
PubMed
Summary

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New medicines may treat multiple cystic fibrosis (CF) mutations. Researchers screened compounds for readthrough modulators of CFTR premature termination codon (PTC) mutations, finding potential treatments applicable across different CFTR genotypes.

Area of Science:

  • Genetics and Molecular Biology
  • Pharmacology
  • Medical Research

Background:

  • Cystic fibrosis (CF) is a genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
  • Over 2000 CFTR mutations exist, including premature termination codon (PTC) mutations, necessitating novel therapeutic strategies.

Purpose of the Study:

  • To develop and utilize cell-based assays for identifying readthrough modulators targeting CFTR PTC mutations.
  • To screen a large compound library for compounds that restore CFTR function in specific PTC mutations.

Main Methods:

  • Development of cell-based assays measuring CFTR trafficking and surface expression.
  • Screening of approximately 85,000 compounds against two CFTR PTC mutations (Y122X and W1282X).
Keywords:
CFTRHTSPTCnonsense suppressionreadthrough

Related Experiment Videos

  • Analysis of hit rates and overlap between compound sets for different mutations.

    • Main Results:

    • Hit rates of 2% for Y122X and 1.4% for W1282X mutations at a stringent threshold.
    • A relatively small overlap (~28%) between hit sets at the stringent threshold.
    • Increased overlap (~50%) when a less stringent criterion was applied.

    Conclusions:

    • The findings suggest that a single medicine might be effective for multiple CFTR PTC mutations.
    • Personalized medicine approaches for CF may not require targeting individual genotypes.
    • Development of readthrough modulators offers a promising therapeutic avenue for a broader CF patient population.