Cardiac arrhythmia and thyroid dysfunction: a novel genetic link.

TitleCardiac arrhythmia and thyroid dysfunction: a novel genetic link.
Publication TypeJournal Article
Year of Publication2010
AuthorsPurtell K, Roepke TK, Abbott GW
JournalInt J Biochem Cell Biol
Date Published2010 Nov
KeywordsAnimals, Arrhythmias, Cardiac, Atrial Fibrillation, Humans, Hyperthyroidism, Hypothyroidism, KCNQ1 Potassium Channel, Long QT Syndrome, Potassium Channels, Voltage-Gated, Thyroid Diseases

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.

Alternate JournalInt. J. Biochem. Cell Biol.
PubMed ID20688187
PubMed Central IDPMC2950229
Grant ListR01 HL079275 / HL / NHLBI NIH HHS / United States
R01 HL079275 / HL / NHLBI NIH HHS / United States
R01HL101190 / HL / NHLBI NIH HHS / United States
T32GM073546 / GM / NIGMS NIH HHS / United States