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Related Experiment Videos

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

Bin Ye1, Carmen R Valdivia, Michael J Ackerman

  • 1Department of Medicine and Physiology, University of Wisconsin, Madison, Wisconsin 53792, USA.

Physiological Genomics
|November 28, 2002
PubMed
Summary

SCN5A gene variants impact cardiac sodium (Na) current. A common polymorphism (H558R) in SCN5A can mask disease-causing mutations, highlighting the importance of clone selection in research.

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Area of Science:

  • Molecular biology
  • Cardiovascular research
  • Genetics

Background:

  • SCN5A gene encodes the alpha-subunit of the cardiac sodium channel.
  • Variations in SCN5A are linked to cardiac arrhythmias like Long QT syndrome (LQT3).
  • Existing SCN5A clones may contain discrepancies affecting experimental outcomes.

Purpose of the Study:

  • To reclone and characterize SCN5A variants.
  • To investigate the impact of a common polymorphism (H558R) on SCN5A function.
  • To assess the influence of background clone selection in mutagenesis studies.

Main Methods:

  • Recloning of SCN5A from a human cardiac cDNA library.
  • Voltage clamp studies to analyze Na current kinetics.
  • Immunocytochemistry to evaluate protein trafficking.

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  • Site-directed mutagenesis to introduce specific mutations.

    • Main Results:

    • A new SCN5A clone (hH1b) differed from existing ones, uniquely containing the H558R polymorphism.
    • The LQT3 mutation M1766L reduced Na current in older clones but not in hH1b.
    • M1766L caused trafficking defects in hH1/hH1a but not hH1b.
    • The double mutation M1766L/H558R restored normal function, suggesting a 'double hit' mechanism.

    Conclusions:

    • Background clone selection is critical for SCN5A mutagenesis studies.
    • The common H558R polymorphism can influence the phenotype of SCN5A mutations.
    • This study demonstrates intragenic complementation in a large protein.