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Nature 421, 587-590 (6 February 2003) | doi:10.1038/421587a
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Human genetics: Lost anchors cost lives
Stanley Nattel
Abstract
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.
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