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Human genetics

Lost anchors cost lives

Nature volume 421, pages 587–589 (2003)Cite this article

Mutations in ion-transport proteins can destabilize the electrical activity of the heart, causing sudden death. It now seems that mutations in a protein that anchors ion transporters to cell membranes can have the same effect.

Many excitable tissues — including the heart, brain and nervous system — are controlled by the flow of electrical currents across cell membranes. The heart, for instance, beats about 100,000 times a day, with each beat requiring an appropriate and coordinated pattern of muscular contraction that is triggered by finely tuned, rhythmic electrical activity. When the coordinated electrical rhythmicity of the heart is disturbed, cardiac pumping is impaired or lost entirely, which can lead to fainting or sudden death; some 300,000 people die each year in the United States alone because of cardiac 'arrhythmias'. Several gene mutations predispose people to life-threatening arrhythmias, and, until now, all identified mutations have occurred in proteins that transport ions across cell membranes. On page 634 of this issue, Mohler and colleagues1 show that a mutation in an 'adaptor' protein, which anchors ion transporters to specialized membrane domains, can also cause potentially fatal arrhythmias.

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Figure 1: The electrical activity underlying heart beats, and the role of the ankyrin-B protein.

References

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  1. Department of Medicine and the Research Center, Montreal Heart Institute and University of Montreal, 5000 Belanger Street East, Montreal, H1T 1C8, Quebec, Canada

    Stanley Nattel

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  1. Stanley Nattel
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Correspondence to Stanley Nattel.

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Nattel, S. Lost anchors cost lives. Nature 421, 587–589 (2003). https://doi.org/10.1038/421587a

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  • DOI: https://doi.org/10.1038/421587a

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