PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy.
Identifieur interne : 002F68 ( Main/Exploration ); 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
Affiliations:
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Le document en format XML
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Green</name></author><author><name sortKey="Tang, Anthony S L" sort="Tang, Anthony S L" uniqKey="Tang A" first="Anthony S L" last="Tang">Anthony S L. Tang</name></author><author><name sortKey="Roberts, Robert" sort="Roberts, Robert" uniqKey="Roberts R" first="Robert" last="Roberts">Robert Roberts</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:12015471</idno><idno type="pmid">12015471</idno><idno type="wicri:Area/PubMed/Corpus">001514</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001514</idno><idno type="wicri:Area/PubMed/Curation">001514</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001514</idno><idno type="wicri:Area/PubMed/Checkpoint">001514</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001514</idno><idno type="wicri:Area/Ncbi/Merge">000225</idno><idno type="wicri:Area/Ncbi/Curation">000225</idno><idno type="wicri:Area/Ncbi/Checkpoint">000225</idno><idno type="wicri:doubleKey">0268-4705:2002:Gollob M:prkag:cardiac:syndrome</idno><idno type="wicri:Area/Main/Merge">003386</idno><idno type="wicri:Area/Main/Curation">002F68</idno><idno type="wicri:Area/Main/Exploration">002F68</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy.</title><author><name sortKey="Gollob, Michael H" sort="Gollob, Michael H" uniqKey="Gollob M" first="Michael H" last="Gollob">Michael H. Gollob</name><affiliation wicri:level="1"><nlm:affiliation>Division of Cardiology, University of Western Ontario, London Health Sciences Center, Ontario, Canada. mgollob@uwo.ca</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Cardiology, University of Western Ontario, London Health Sciences Center, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Green, Martin S" sort="Green, Martin S" uniqKey="Green M" first="Martin S" last="Green">Martin S. Green</name></author><author><name sortKey="Tang, Anthony S L" sort="Tang, Anthony S L" uniqKey="Tang A" first="Anthony S L" last="Tang">Anthony S L. Tang</name></author><author><name sortKey="Roberts, Robert" sort="Roberts, Robert" uniqKey="Roberts R" first="Robert" last="Roberts">Robert Roberts</name></author></analytic><series><title level="j">Current opinion in cardiology</title><idno type="ISSN">0268-4705</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>AMP-Activated Protein Kinases</term><term>Adult</term><term>Cardiomegaly (complications)</term><term>Cardiomegaly (genetics)</term><term>Gene Expression Regulation, Enzymologic (genetics)</term><term>Genetic Predisposition to Disease</term><term>Heart Conduction System (physiopathology)</term><term>Humans</term><term>Male</term><term>Multienzyme Complexes (genetics)</term><term>Pre-Excitation Syndromes (complications)</term><term>Pre-Excitation Syndromes (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Multienzyme Complexes</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>AMP-Activated Protein Kinases</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cardiomegaly</term><term>Pre-Excitation Syndromes</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cardiomegaly</term><term>Gene Expression Regulation, Enzymologic</term><term>Pre-Excitation Syndromes</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Heart Conduction System</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Green, Martin S" sort="Green, Martin S" uniqKey="Green M" first="Martin S" last="Green">Martin S. Green</name><name sortKey="Roberts, Robert" sort="Roberts, Robert" uniqKey="Roberts R" first="Robert" last="Roberts">Robert Roberts</name><name sortKey="Tang, Anthony S L" sort="Tang, Anthony S L" uniqKey="Tang A" first="Anthony S L" last="Tang">Anthony S L. Tang</name></noCountry><country name="Canada"><noRegion><name sortKey="Gollob, Michael H" sort="Gollob, Michael H" uniqKey="Gollob M" first="Michael H" last="Gollob">Michael H. Gollob</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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