KATP channels and cardiovascular disease: Suddenly a syndrome
Identifieur interne : 005771 ( Ncbi/Merge ); précédent : 005770; suivant : 005772KATP channels and cardiovascular disease: Suddenly a syndrome
Auteurs : Colin G. Nichols ; Gautam K. Singh [États-Unis] ; Dorothy K. Grange [États-Unis]Source :
- Circulation research [ 0009-7330 ] ; 2013.
Descripteurs français
- KwdFr :
- MESH :
- physiologie : Canaux KATP, Coeur.
- physiopathologie : Cardiomégalie, Hypertrichose, Maladies génétiques liées au chromosome X, Ostéochondrodysplasies, Troubles du rythme cardiaque.
- Animaux, Humains.
English descriptors
- KwdEn :
- MESH :
- chemical , physiology : KATP Channels.
- physiology : Heart.
- physiopathology : Arrhythmias, Cardiac, Cardiomegaly, Genetic Diseases, X-Linked, Hypertrichosis, Osteochondrodysplasias.
- Animals, Humans.
Abstract
ATP-sensitive potassium (KATP ) channels were first discovered in the heart 30 years ago
Url:
DOI: 10.1161/CIRCRESAHA.112.300514
PubMed: 23538276
PubMed Central: 3660033
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PMC:3660033Le document en format XML
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<front><div type="abstract" xml:lang="en"><p id="P1">ATP-sensitive potassium (K<sub>ATP</sub>
) channels were first discovered in the heart 30 years ago<sup><xref ref-type="bibr" rid="R1">1</xref>
</sup>
. Reconstitution of K<sub>ATP</sub>
channel activity by coexpression of members of the pore-forming inward rectifier gene family (Kir6.1, <italic>KCNJ8,</italic>
and Kir6.2 <italic>KCNJ11</italic>
) with sulfonylurea receptors (SUR1, <italic>ABCC8,</italic>
and SUR2, <italic>ABCC9</italic>
) of the ABCC protein sub-family, has led to the elucidation of many details of channel gating and pore properties. In addition, the essential roles of Kir6.x and SURx subunits in generating cardiac and vascular K<sub>ATP</sub>
<sup><xref ref-type="bibr" rid="R2">2</xref>
</sup>
and the detrimental consequences of genetic deletions or mutations in mice have been recognised<sup><xref ref-type="bibr" rid="R3">3</xref>
</sup>
. However, despite this extensive body of knowledge, there has been a paucity of defined roles of K<sub>ATP</sub>
subunits in human cardiovascular diseases, although there are reports of association of a single Kir6.1 variant with the J-wave syndrome in the electrocardiogram, and two isolated studies have reported association of loss of function mutations in SUR2 with atrial fibrillation and heart failure. Two new studies convincingly demonstrate that mutations in the SUR2 gene are associated with Cantu syndrome, a complex multi-organ disorder characterized by hypertrichosis, craniofacial dysmorphology, osteochondrodysplasia, patent ductus arteriosus, cardiomegaly, pericardial effusion, and lymphoedema. As we discuss, this realization of previously unconsidered consequences provides significant insight into the roles of the K<sub>ATP</sub>
channel in the cardiovascular system and suggests novel therapeutic possibilities.</p>
</div>
</front>
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<front><div type="abstract" xml:lang="en"><p id="P1">ATP-sensitive potassium (K<sub>ATP</sub>
) channels were first discovered in the heart 30 years ago<sup><xref ref-type="bibr" rid="R1">1</xref>
</sup>
. Reconstitution of K<sub>ATP</sub>
channel activity by coexpression of members of the pore-forming inward rectifier gene family (Kir6.1, <italic>KCNJ8,</italic>
and Kir6.2 <italic>KCNJ11</italic>
) with sulfonylurea receptors (SUR1, <italic>ABCC8,</italic>
and SUR2, <italic>ABCC9</italic>
) of the ABCC protein sub-family, has led to the elucidation of many details of channel gating and pore properties. In addition, the essential roles of Kir6.x and SURx subunits in generating cardiac and vascular K<sub>ATP</sub>
<sup><xref ref-type="bibr" rid="R2">2</xref>
</sup>
and the detrimental consequences of genetic deletions or mutations in mice have been recognised<sup><xref ref-type="bibr" rid="R3">3</xref>
</sup>
. However, despite this extensive body of knowledge, there has been a paucity of defined roles of K<sub>ATP</sub>
subunits in human cardiovascular diseases, although there are reports of association of a single Kir6.1 variant with the J-wave syndrome in the electrocardiogram, and two isolated studies have reported association of loss of function mutations in SUR2 with atrial fibrillation and heart failure. Two new studies convincingly demonstrate that mutations in the SUR2 gene are associated with Cantu syndrome, a complex multi-organ disorder characterized by hypertrichosis, craniofacial dysmorphology, osteochondrodysplasia, patent ductus arteriosus, cardiomegaly, pericardial effusion, and lymphoedema. As we discuss, this realization of previously unconsidered consequences provides significant insight into the roles of the K<sub>ATP</sub>
channel in the cardiovascular system and suggests novel therapeutic possibilities.</p>
</div>
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<front><div type="abstract" xml:lang="en">ATP-sensitive potassium (KATP) channels were first discovered in the heart 30 years ago. Reconstitution of KATP channel activity by coexpression of members of the pore-forming inward rectifier gene family (Kir6.1, KCNJ8, and Kir6.2 KCNJ11) with sulfonylurea receptors (SUR1, ABCC8, and SUR2, ABCC9) of the ABCC protein subfamily has led to the elucidation of many details of channel gating and pore properties. In addition, the essential roles of Kir6.x and SURx subunits in generating cardiac and vascular KATP(2) and the detrimental consequences of genetic deletions or mutations in mice have been recognized. However, despite this extensive body of knowledge, there has been a paucity of defined roles of KATP subunits in human cardiovascular diseases, although there are reports of association of a single Kir6.1 variant with the J-wave syndrome in the ECG, and 2 isolated studies have reported association of loss of function mutations in SUR2 with atrial fibrillation and heart failure. Two new studies convincingly demonstrate that mutations in the SUR2 gene are associated with Cantu syndrome, a complex multi-organ disorder characterized by hypertrichosis, craniofacial dysmorphology, osteochondrodysplasia, patent ductus arteriosus, cardiomegaly, pericardial effusion, and lymphoedema. This realization of previously unconsidered consequences provides significant insight into the roles of the KATP channel in the cardiovascular system and suggests novel therapeutic possibilities.</div>
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