Abstract
In the past two decades, mutations in cardiac ion channels have been shown to underlie a number of rare inherited cardiac arrhythmias. Defects in cardiac Na+ channels can disrupt channel gating and cause electrical abnormalities that increase susceptibility to cardiac arrhythmia. Dozens of mutations have been identified in the gene SCN5A, which encodes the α subunit of the cardiac Na+ channel, and have been causally linked to a wide spectrum of cardiac arrhythmic disorders. An important step in understanding genetically based arrhythmias is to clarify the relationship between molecular defects and the disruption of the delicate balance of dynamic interactions at the cell, tissue, and organ levels. Here, we provide an overview of cardiac Na+ channel mutations that are associated with inherited arrhythmia syndromes. We also address pros and cons of current methodologies used to understand how specific genetic defects disrupt channel-gating kinetics and underlie cardiac arrhythmia. Finally, we discuss effects of mutations on predictability and efficacy of treatment with Na+ channel-blocking drugs.
| Original language | English (US) |
|---|---|
| Journal | Journal of Electrocardiology |
| Volume | 40 |
| Issue number | 6 SUPPL. 1 |
| DOIs | |
| State | Published - Nov 2007 |
| Externally published | Yes |
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Keywords
- Arrhythmia
- Cardiac ion channel mutation
- Na channel blockers
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
Cite this
Genetic mutations and arrhythmia : simulation from DNA to electrocardiogram. / Zhu, Zheng I.; Clancy, Colleen E.
In: Journal of Electrocardiology, Vol. 40, No. 6 SUPPL. 1, 11.2007.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetic mutations and arrhythmia
T2 - simulation from DNA to electrocardiogram
AU - Zhu, Zheng I.
AU - Clancy, Colleen E
PY - 2007/11
Y1 - 2007/11
N2 - In the past two decades, mutations in cardiac ion channels have been shown to underlie a number of rare inherited cardiac arrhythmias. Defects in cardiac Na+ channels can disrupt channel gating and cause electrical abnormalities that increase susceptibility to cardiac arrhythmia. Dozens of mutations have been identified in the gene SCN5A, which encodes the α subunit of the cardiac Na+ channel, and have been causally linked to a wide spectrum of cardiac arrhythmic disorders. An important step in understanding genetically based arrhythmias is to clarify the relationship between molecular defects and the disruption of the delicate balance of dynamic interactions at the cell, tissue, and organ levels. Here, we provide an overview of cardiac Na+ channel mutations that are associated with inherited arrhythmia syndromes. We also address pros and cons of current methodologies used to understand how specific genetic defects disrupt channel-gating kinetics and underlie cardiac arrhythmia. Finally, we discuss effects of mutations on predictability and efficacy of treatment with Na+ channel-blocking drugs.
AB - In the past two decades, mutations in cardiac ion channels have been shown to underlie a number of rare inherited cardiac arrhythmias. Defects in cardiac Na+ channels can disrupt channel gating and cause electrical abnormalities that increase susceptibility to cardiac arrhythmia. Dozens of mutations have been identified in the gene SCN5A, which encodes the α subunit of the cardiac Na+ channel, and have been causally linked to a wide spectrum of cardiac arrhythmic disorders. An important step in understanding genetically based arrhythmias is to clarify the relationship between molecular defects and the disruption of the delicate balance of dynamic interactions at the cell, tissue, and organ levels. Here, we provide an overview of cardiac Na+ channel mutations that are associated with inherited arrhythmia syndromes. We also address pros and cons of current methodologies used to understand how specific genetic defects disrupt channel-gating kinetics and underlie cardiac arrhythmia. Finally, we discuss effects of mutations on predictability and efficacy of treatment with Na+ channel-blocking drugs.
KW - Arrhythmia
KW - Cardiac ion channel mutation
KW - Na channel blockers
UR - http://www.scopus.com/inward/record.url?scp=35748932348&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=35748932348&partnerID=8YFLogxK
U2 - 10.1016/j.jelectrocard.2007.05.033
DO - 10.1016/j.jelectrocard.2007.05.033
M3 - Article
C2 - 17993328
AN - SCOPUS:35748932348
VL - 40
JO - Journal of Electrocardiology
JF - Journal of Electrocardiology
SN - 0022-0736
IS - 6 SUPPL. 1
ER -