Informace o publikaci

Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease

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NOVOTNY Tomas KADLECOVA Jitka RAUDENSKÁ Martina BITTNEROVÁ Alexandra ANDRŠOVÁ Irena FLORIANOVA Alena VAŠKŮ Anna NEUGEBAUER Petr KOZÁK Milan SEPŠI Milan KŘIVAN Lubomír GAILLYOVÁ Renata ŠPINAR Jindřich

Rok publikování 2011
Druh Článek v odborném periodiku
Časopis / Zdroj PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Doi http://dx.doi.org/10.1111/j.1540-8159.2011.03045.x
Obor Kardiovaskulární nemoci včetně kardiochirurgie
Klíčová slova sudden death; ventricular fibrillation; ion channel; mutation
Popis Methods: The entire coding sequence of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was analyzed in 45 (five females) CAD individuals-survivors of documented VF and in 90 matched healthy controls. In another control group of 141 matched patients with CAD without malignant arrhythmias, the exons containing rare coding variants found in the VF survivors were sequenced. Results: The carrier frequency of all the rare sequence variants was significantly higher in the VF survivors (8/45, 17.8%) than in CAD controls (3/141, 2.2%, P = 0.001). In VF survivors, four coding variants in eight individuals were found. Three in KCNH2 gene: R148W and GAG186del are novel; P347S was previously related to long QT syndrome. In SCN5A gene, P2006A variant was found in five unrelated males. This variant has been demonstrated previously to have small effect on sodium channel kinetics. No rare coding variants were found in the healthy controls. The P2006A variant was found in three CAD controls. Conclusion: The prevalence of selected, rare coding variants in five long QT genes was significantly higher in cases versus controls, confirming a mechanistic role for these genes among a subgroup of patients with coronary disease and VF. (PACE 2011; 1-8).
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