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Frequency and Genotype-Dependence of intrinsic chronotropic insufficiency among patients with congenital long QT syndrome.
J Cardiovasc Electrophysiol
January 2025
Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota.
Article Synopsis
- Long QT syndrome (LQTS) is a heart condition associated with prolonged QT intervals, which can lead to serious events like arrhythmias and sudden cardiac arrest. The study aims to explore if patients with untreated LQTS experience chronotropic insufficiency (CI), a condition where the heart cannot sufficiently increase its rate in response to exercise.
- A retrospective analysis was conducted on 463 patients with different LQTS genotypes (LQT1, LQT2, LQT3), focusing on those who were not on beta blockers; about 51% of these patients exhibited CI, with LQT1 patients showing the highest prevalence.
- The findings suggest that while patients with LQTS, especially LQT1, have
Establishment of two human induced pluripotent stem cell lines from familial long QT syndrome type 1 patients carrying KCNQ1 mutation.
Stem Cell Res
December 2024
Division of Cardiology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea. Electronic address:
Article Synopsis
- - Long QT syndrome type 1 (LQT1) is a heart disorder arising from mutations in the KCNQ1 gene, which can cause serious symptoms like palpitations, fainting, and even sudden cardiac arrest.
- - Researchers created induced pluripotent stem cells (iPSCs) from patients with LQT1 to study the effects of a specific genetic mutation (c.734G>A; p.Gly245Glu).
- - The iPSCs were generated using a non-integrative method (Sendai virus), ensuring they retain stem cell properties and can differentiate into various cell types, making them a valuable resource for studying LQT1.
Targeting the I Channel PKA Phosphorylation Axis to Restore Its Function in High-Risk LQT1 Variants.
Circ Res
September 2024
Dr. Neher's Biophysics Laboratory for Innovative Drug Discovery, State Key Laboratory of Quality Research in Chinese Medicine, Macau University of Science and Technology, Taipa, Macao SAR, China (L.Z., Z.Y., D.J., Y.O., H.Z., X.L., C.X., C.H., B.S., S.K.C., Z.-H.J., E.N., P.H.).
Article Synopsis
- The KCNQ1+KCNE1 potassium channel is vital for heart stress adaptation, where β-adrenergic stimulation enhances its activity via phosphorylation, essential for managing increased heart rates.
- Variants in the KCNQ1 gene can lead to long-QT syndrome type 1 (LQT1), with some mutations making patients more susceptible to serious heart risks, but the details of how phosphorylation affects channel function and cAMP sensitivity are still unclear.
- Research using techniques like patch clamp and induced pluripotent stem cells revealed key molecular features in LQT1 variants and identified a small molecule, ML277, that can restore function in high-risk mutations by targeting the phosphorylation axis of the channel.
KCNQ1 suppression-replacement gene therapy in transgenic rabbits with type 1 long QT syndrome.
Eur Heart J
September 2024
Translational Cardiology, Department of Cardiology and Department of Physiology, University Hospital Bern, University of Bern, Bühlplatz 5, 3012 Bern, Switzerland.
Background And Aims: Type 1 long QT syndrome (LQT1) is caused by pathogenic variants in the KCNQ1-encoded Kv7.1 potassium channels, which pathologically prolong ventricular action potential duration (APD). Herein, the pathologic phenotype in transgenic LQT1 rabbits is rescued using a novel KCNQ1 suppression-replacement (SupRep) gene therapy.
View Article and Find Full Text PDFGenetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.
Europace
June 2024
CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat, 46 rue Henri Huchard, 75018 Paris, France.
Article Synopsis
- KCNQ1 mutations are linked to long QT syndrome (LQT) and increase the risk of life-threatening heart arrhythmias, with distinct impacts based on whether the mutations are heterozygous or homozygous.
- This study analyzed data from 789 individuals with KCNQ1 variants to compare QTc duration and cardiac event risks among three groups: JLNS patients, heterozygous JLNS variant carriers, and heterozygous non-JLNS variant carriers.
- Findings revealed that heterozygous JLNS variant carriers had a significantly lower risk of cardiac events compared to non-JLNS carriers, with specific genetic factors identified as influencing these risks.
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