PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy.
Identifieur interne : 002F68 ( Main/Curation ); précédent : 002F67; suivant : 002F69PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy.
Auteurs : Michael H. Gollob [Canada] ; Martin S. Green ; Anthony S L. Tang ; Robert RobertsSource :
- Current opinion in cardiology [ 0268-4705 ] ; 2002.
English descriptors
- KwdEn :
- AMP-Activated Protein Kinases, Adult, Cardiomegaly (complications), Cardiomegaly (genetics), Gene Expression Regulation, Enzymologic (genetics), Genetic Predisposition to Disease, Heart Conduction System (physiopathology), Humans, Male, Multienzyme Complexes (genetics), Pre-Excitation Syndromes (complications), Pre-Excitation Syndromes (genetics), Protein-Serine-Threonine Kinases (genetics).
- MESH :
- chemical , genetics : Multienzyme Complexes, Protein-Serine-Threonine Kinases.
- chemical : AMP-Activated Protein Kinases.
- complications : Cardiomegaly, Pre-Excitation Syndromes.
- genetics : Cardiomegaly, Gene Expression Regulation, Enzymologic, Pre-Excitation Syndromes.
- physiopathology : Heart Conduction System.
- Adult, Genetic Predisposition to Disease, Humans, Male.
Abstract
Genetic studies of families with inherited cardiac rhythm disturbances have established a molecular basis for ventricular arrhythmogenic disorders. Genes responsible for the long QT syndrome, Brugada syndrome, and polymorphic ventricular tachycardia have been identified. The elucidation of genetic defects responsible for more commonly occurring supraventricular rhythm disturbances have not been as forthcoming, with the exception of SCN5A mutations known to cause conduction system disease. Recently, we identified the genetic cause of a familial arrhythmogenic syndrome characterized by ventricular preexcitation and tachyarrhythmias (Wolff-Parkinson-White syndrome), progressive conduction system disease, and cardiac hypertrophy. The causative gene was shown to be the gamma-2 regulatory subunit (PRKAG2) of AMP-activated protein kinase. The role of AMP-activated protein kinase in the regulation of the glucose metabolic pathway in muscle suggests that genetic defects in PRKAG2 may induce a previously undescribed cardiac glycogenosis syndrome.
PubMed: 12015471
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pubmed:12015471Le document en format XML
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<term>Gene Expression Regulation, Enzymologic (genetics)</term>
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<term>Pre-Excitation Syndromes</term>
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<front><div type="abstract" xml:lang="en">Genetic studies of families with inherited cardiac rhythm disturbances have established a molecular basis for ventricular arrhythmogenic disorders. Genes responsible for the long QT syndrome, Brugada syndrome, and polymorphic ventricular tachycardia have been identified. The elucidation of genetic defects responsible for more commonly occurring supraventricular rhythm disturbances have not been as forthcoming, with the exception of SCN5A mutations known to cause conduction system disease. Recently, we identified the genetic cause of a familial arrhythmogenic syndrome characterized by ventricular preexcitation and tachyarrhythmias (Wolff-Parkinson-White syndrome), progressive conduction system disease, and cardiac hypertrophy. The causative gene was shown to be the gamma-2 regulatory subunit (PRKAG2) of AMP-activated protein kinase. The role of AMP-activated protein kinase in the regulation of the glucose metabolic pathway in muscle suggests that genetic defects in PRKAG2 may induce a previously undescribed cardiac glycogenosis syndrome.</div>
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