Document Detail


Cardiac arrhythmia and thyroid dysfunction: a novel genetic link.
MedLine Citation:
PMID:  20688187     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Inherited Long QT Syndrome (LQTS), a cardiac arrhythmia that predisposes to the often lethal ventricular fibrillation, is commonly linked to mutations in KCNQ1. The KCNQ1 voltage-gated K(+) channel α subunit passes ventricular myocyte K(+) current that helps bring a timely end to each heart-beat. KCNQ1, like many K(+) channel α subunits, is regulated by KCNE β subunits, inherited mutations in which also associate with LQTS. KCNQ1 and KCNE mutations are also associated with atrial fibrillation. It has long been known that thyroid status strongly influences cardiac function, and that thyroid dysfunction causes abnormal cardiac structure and rhythm. We recently discovered that KCNQ1 and KCNE2 form a thyroid-stimulating hormone-stimulated K(+) channel in the thyroid that is required for normal thyroid hormone biosynthesis. Here, we review this novel genetic link between cardiac and thyroid physiology and pathology, and its potential influence upon future therapeutic strategies in cardiac and thyroid disease.
Authors:
Kerry Purtell; Torsten K Roepke; Geoffrey W Abbott
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review     Date:  2010-08-03
Journal Detail:
Title:  The international journal of biochemistry & cell biology     Volume:  42     ISSN:  1878-5875     ISO Abbreviation:  Int. J. Biochem. Cell Biol.     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-05     Completed Date:  2011-01-18     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  9508482     Medline TA:  Int J Biochem Cell Biol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  1767-70     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier Ltd. All rights reserved.
Affiliation:
Department of Pharmacology, Weill Medical College of Cornell University, New York, NY 10021, USA.
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MeSH Terms
Descriptor/Qualifier:
Animals
Arrhythmias, Cardiac / genetics*,  metabolism,  physiopathology*
Atrial Fibrillation / genetics,  metabolism,  physiopathology
Humans
Hyperthyroidism / genetics,  metabolism,  physiopathology
Hypothyroidism / genetics,  metabolism,  physiopathology
KCNQ1 Potassium Channel / genetics
Long QT Syndrome / genetics,  metabolism,  physiopathology
Potassium Channels, Voltage-Gated / genetics
Thyroid Diseases / genetics*,  metabolism,  physiopathology*
Grant Support
ID/Acronym/Agency:
R01 HL079275/HL/NHLBI NIH HHS; R01 HL079275/HL/NHLBI NIH HHS; R01HL101190/HL/NHLBI NIH HHS; T32GM073546/GM/NIGMS NIH HHS
Chemical
Reg. No./Substance:
0/KCNQ1 Potassium Channel; 0/Potassium Channels, Voltage-Gated
Comments/Corrections

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