| Title |
Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies
|
|---|---|
| Published in |
The Application of Clinical Genetics, January 2013
|
| DOI | 10.2147/tacg.s29676 |
| Pubmed ID | |
| Authors |
Pi-Yin Hsiao, Hui-Chun Tien, Chu-Pin Lo, Jyh-Ming Jimmy Juang, Yi-Hsin Wang, Ruey J Sung |
| Abstract |
Over the past 15 years, molecular genetic studies have linked gene mutations to many inherited arrhythmogenic disorders, in particular, "ion channelopathies", in which mutations in genes encode functional units of ion channels and/or their transporter-associated proteins in patients without primary cardiac structural abnormalities. These disorders are exemplified by congenital long QT syndrome (LQTS), short QT syndrome, Brugada syndrome (BrS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). Functional and pathophysiological studies have led to better understanding of the clinical spectrum, ion channel structures and cellular electrophysiology involving dynamics of intracellular calcium cycling in many subtypes of these disorders and more importantly, development of potentially more effective pharmacological agents and even curative gene therapy. In this review, we have summarized (1) the significance of unveiling mutations in genes encoding transporter-associated proteins as the cause of congenital LQTS, (2) the technique of catheter ablation applied at the right ventricular outflow tract may be curative for severely symptomatic BrS, (3) mutations with channel function modulated by protein Kinase A-dependent phosphorylation can be the culprit of CPVT mimicry in Andersen-Tawil syndrome (LQT7), (4) ablation of the ion channel anchoring protein may prevent arrhythmogenesis in Timothy syndrome (LQT8), (5) altered intracellular Ca2+ cycling can be the basis of effective targeted pharmacotherapy in CPVT, and (6) the technology of induced pluripotent stem cells is a promising diagnostic and research tool as it has become a new paradigm for pathophysiological study of patient- and disease-specific cells aimed at screening new drugs and eventual clinical application of gene therapy. Lastly, we have discussed (7) genotype-phenotype correlation in relation to risk stratification of patients with congenital LQTS in clinical practice. |
Mendeley readers
The data shown below were compiled from readership statistics for 92 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Chile | 1 | 1% |
| Netherlands | 1 | 1% |
| Unknown | 90 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 17 | 18% |
| Researcher | 16 | 17% |
| Other | 13 | 14% |
| Student > Master | 13 | 14% |
| Student > Bachelor | 8 | 9% |
| Other | 15 | 16% |
| Unknown | 10 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 33 | 36% |
| Biochemistry, Genetics and Molecular Biology | 19 | 21% |
| Agricultural and Biological Sciences | 15 | 16% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 2% |
| Business, Management and Accounting | 1 | 1% |
| Other | 7 | 8% |
| Unknown | 15 | 16% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 May 2013.
All research outputs
#23,100,963
of 25,748,735 outputs
Outputs from The Application of Clinical Genetics
#1
of 1 outputs
Outputs of similar age
#260,566
of 290,976 outputs
Outputs of similar age from The Application of Clinical Genetics
#1
of 1 outputs
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