Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia

Colleen E Clancy, Yoram Rudy

Research output: Contribution to journalArticle

324 Citations (Scopus)

Abstract

Advances in genetics and molecular biology have provided an extensive body of information on the structure and function of the elementary building blocks of living systems. Genetic defects in membrane ion channels can disrupt the delicate balance of dynamic interactions between the ion channels and the cellular environment, leading to altered cell function. As ion- channel defects are typically studied in isolated expression systems, away from the cellular environment where they function physiologically, a connection between molecular findings and the physiology and pathophysiology of the cell is rarely established. Here we describe a single-channel-based Markovian modelling approach that bridges this gap. We achieve this by determining the cellular arrhythmogenic consequences of a mutation in the cardiac sodium channel that can lead to a clinical arrhythmogenic disorder (the long-QT syndrome) and sudden cardiac death.

Original languageEnglish (US)
Pages (from-to)566-569
Number of pages4
JournalNature
Volume400
Issue number6744
DOIs
StatePublished - Aug 5 1999
Externally publishedYes

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Ion Channels
Cardiac Arrhythmias
Phenotype
Long QT Syndrome
Cell Physiological Phenomena
Sodium Channels
Sudden Cardiac Death
Molecular Biology
Mutation

ASJC Scopus subject areas

  • General

Cite this

Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia. / Clancy, Colleen E; Rudy, Yoram.

In: Nature, Vol. 400, No. 6744, 05.08.1999, p. 566-569.

Research output: Contribution to journalArticle

Clancy, Colleen E ; Rudy, Yoram. / Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia. In: Nature. 1999 ; Vol. 400, No. 6744. pp. 566-569.
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