The variation of the sarcolipin gene (SLN) in atrial fibrillation, long QT syndrome and sudden arrhythmic death syndrome

Nyberg, Mia Titine; Stoevring, Birgitte; Behr, Elijah R.; Ravn, Lisbet; McKenna, William J.; Christiansen, Michael

doi:10.1016/j.cca.2006.06.020

Cited by 32 publications

(14 citation statements)

References 33 publications

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“…A mutation in the gene encoding the adapter protein ankyrin-B (long-QT syndrome-4 [LQT4]), which impairs targeting of multiple proteins to the cell membrane, alters Ca 2+ handling, and leads to DADs/triggered activity (45). A predicted loss-of-function SNP in the gene encoding the SERCA-inhibitory protein sarcolipin is also associated with AF (46).…”

Section: Genetic Contributors To Ectopic Activitymentioning

confidence: 99%

Recent advances in the molecular pathophysiology of atrial fibrillation

Wakili¹,

Voigt²,

Kääb³

et al. 2011

J. Clin. Invest.

483

461

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Atrial fibrillation (AF) is an extremely common cardiac rhythm disorder that causes substantial morbidity and contributes to mortality. The mechanisms underlying AF are complex, involving both increased spontaneous ectopic firing of atrial cells and impulse reentry through atrial tissue. Over the past ten years, there has been enormous progress in understanding the underlying molecular pathobiology. This article reviews the basic mechanisms and molecular processes causing AF. We discuss the ways in which cardiac disease states, extracardiac factors, and abnormal genetic control lead to the arrhythmia. We conclude with a discussion of the potential therapeutic implications that might arise from an improved mechanistic understanding.Authorship note: Reza Wakili and Niels Voigt contributed equally to this work.

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Section: Genetic Contributors To Ectopic Activitymentioning

confidence: 99%

Recent advances in the molecular pathophysiology of atrial fibrillation

Wakili¹,

Voigt²,

Kääb³

et al. 2011

J. Clin. Invest.

483

461

View full text Add to dashboard Cite

show abstract

“…Examples include polymorphisms in potassium channel genes [17][18][19][20], sodium channel genes [16], genes that encode ion channel regulating proteins [21,53], genes encoding connexins [22], genes encoding circulating hormones [54][55][56] and genes encoding inflammatory mediators [57,58]. The results from association studies are summarized in Table 27.2.…”

Section: Candidate Gene Association Studies In Afmentioning

confidence: 97%

Genetics of Atrial Fibrillation

Mahida¹,

Rienstra²,

Sinner³

et al. 2011

Heart Rate and Rhythm

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“…Interestingly, familial AF-causing mutations in I Ks channel genes have all had gain-of-function effects, 35,36,49 whereas the S38G variant in the KCNE1 gene reduces I Ks current density and prolongs atrial APD. 58 AF has also been associated with SNPs in genes that alter regulation of ion channel function (eg, GNB3 and NOS3 genes), 57,61,62 intracellular Ca 2ϩ handling, 63 gap junction formation (eg, GJA5 gene), 64,65 and activation of the renin-angiotensin system. 62,66 -68 Although these studies suggest that a variety of genetic defects that alter the electrical or structural milieu of the atrium can provide a substrate for arrhythmogenesis, they are far from being definitive.…”

Section: Single-nucleotide Polymorphisms and Afmentioning

confidence: 99%

Genes and Atrial Fibrillation

2007

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A trial fibrillation (AF) is an abnormality of the heart's rhythm that is characterized by rapid and irregular activation of the atria. AF was first described in humans in 1906 1 and is now recognized to be the most common sustained cardiac arrhythmia and a major public health burden. 2 The loss of coordinated atrial contraction results in reduced ventricular filling and blood stasis in the atria, which predispose to heart failure and thromboembolic stroke, respectively. 3,4 AF accounts for 15% of all strokes and one third of strokes in individuals Ͼ65 years of age. 4 AF is also an independent risk factor for death, with a relative risk over all age groups of 1.5 for men and 1.9 for women. 5 The prevalence of AF increases with age, ranging from Ͻ1% in young adults to nearly 10% of those Ͼ80 years old. 6 Given our aging population, together with contemporary increases in the incidence of risk factors for AF, the numbers affected and the hospitalization and treatment costs are predicted to increase markedly in the future. 2 These observations underscore the need for a better understanding of the pathophysiological basis of AF and for the development of new approaches to prevention and management.AF is frequently observed as a complication of diverse cardiac and systemic disorders, including hypertension, coronary artery disease, valvular heart disease, and cardiomyopathies. Hence, AF has traditionally been regarded as a sporadic, nongenetic disorder. In approximately 10% to 20% of cases, an underlying cause cannot be identified, and AF is termed "idiopathic" or "lone." 7 One hundred years on, there is now accumulating evidence that genetic factors have a role in the pathogenesis of AF in a significant proportion of cases. The genes involved and the mechanisms by which defects in these genes alter atrial electrophysiological properties and promote arrhythmogenesis have recently begun to be explored and are summarized in this review.

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The variation of the sarcolipin gene (SLN) in atrial fibrillation, long QT syndrome and sudden arrhythmic death syndrome

Cited by 32 publications

References 33 publications

Recent advances in the molecular pathophysiology of atrial fibrillation

Recent advances in the molecular pathophysiology of atrial fibrillation

Genetics of Atrial Fibrillation

Genes and Atrial Fibrillation

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