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Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Sodium Channel
- Source :
- Circulation Research. 108:884-897
- Publication Year :
- 2011
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2011.
-
Abstract
- Variations in the gene encoding for the major sodium channel (Na v 1.5) in the heart, SCN5A, has been shown to cause a number of arrhythmia syndromes (with or without structural changes in the myocardium), including the long-QT syndrome (type 3), Brugada syndrome, (progressive) cardiac conduction disease, sinus node dysfunction, atrial fibrillation, atrial standstill, and dilated cardiomyopathy. Of equal importance are variations in genes encoding for various subunits and regulatory proteins interacting with the α-subunit Na v 1.5 and modifying its function. Based on detailed studies of genotype–phenotype relationships in these disease entities, on detailed studies of the basic electrophysiological phenotypes (heterologous expressed wild-type and mutant sodium channels and their interacting proteins), and on attempts to integrate the obtained knowledge, the past 15 years has witnessed an explosion of knowledge about these disease entities.
- Subjects :
- SUDDEN-INFANT-DEATH
medicine.medical_specialty
FAMILIAL ATRIAL-FIBRILLATION
Caveolin 3
Physiology
Long QT syndrome
Muscle Proteins
Glycerolphosphate Dehydrogenase
LONG-QT SYNDROME
NAV1.5 Voltage-Gated Sodium Channel
BRUGADA-SYNDROME
sudden cardiac death
Sodium Channels
Sick sinus syndrome
Internal medicine
Cardiac conduction
medicine
Humans
cardiovascular diseases
NITRIC-OXIDE SYNTHASE
Brugada syndrome
Genetics
business.industry
Sodium channel
SICK SINUS SYNDROME
Calcium-Binding Proteins
Membrane Proteins
Arrhythmias, Cardiac
Dilated cardiomyopathy
medicine.disease
SARCOLEMMAL CALCIUM-PUMP
OF-FUNCTION MUTATION
Phenotype
Endocrinology
Mutation
NA+ CHANNEL
PROTEIN-KINASE-II
Cardiology and Cardiovascular Medicine
business
arrhythmias
Familial atrial fibrillation
sodium channel
Subjects
Details
- ISSN :
- 15244571 and 00097330
- Volume :
- 108
- Database :
- OpenAIRE
- Journal :
- Circulation Research
- Accession number :
- edsair.doi.dedup.....916c4eeb8221cafd6cf59e807c0b3502