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Cardiovascular medicine
Published in Shibley Rahman, Avinash Sharma, A Complete MRCP(UK) Parts 1 and 2 Written Examination Revision Guide, 2018
Shibley Rahman, Avinash Sharma
Romano-Ward syndrome is purely a cardiac electrophysiological disorder, characterised by QT prolongation and T-wave abnormalities on the ECG. It is in fact the most common form of inherited long QT syndrome, affecting an estimated 1 in 7000 people worldwide. Mutations in the KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome.
Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome
Published in Fetal and Pediatric Pathology, 2019
Samaneh Vojdani, Susan Amirsalari, Saman Milanizadeh, Fatemeh Molaei, Mohammad Ajalloueyane, Arezoo Khosravi, Leila Hamzehzadeh, Mohammad Mehdi Ghasemi, Mohammad Reza Talee, Mohammad Reza Abbaszadegan
Molecular genetic studies have recognized that congenital LQTS is related to mutations in genes that encode subunits of cardiac ion channels (KCNQ1, HERG, SCN5A, KCNE1, and KCNE2). KCNQ1 and HERG encode α-subunits of the potassium channel with six transmembrane domains; whereas β-subunits of the potassium channel encoded by MinK(KCNE1) and MiRP1 configures the functionally slow activated delayed rectifier (IKs) potassium channels by gathering MinK. HERG with MiRP1 encoded by KCNE2 assembles to form the rapidly activated delayed rectifier (IKr) potassium channel. Mutations in the encoding gene of the cardiac sodium channel (SCN5A) cause LQT phenotype. It has been shown that autosomal recessive LQTS (JLNS) occurs with homozygous or compound heterozygous loss of function mutations in KCNQ1 or KCNE1 genes [4].
Approaches for the discovery of drugs that target K Na 1.1 channels in KCNT1-associated epilepsy
Published in Expert Opinion on Drug Discovery, 2022
Barbara Miziak, Stanisław J Czuczwar
Tedeschi et al. [65] performed biophysical characterization of stoichiometry and protein diffusion across the plasma membrane of the epithelial KCNQ1-KCNE2 complex using TIRF microscope and series of complementary Fluorescence Fluctuation Spectroscopy (FFS) techniques. The authors, among others, identified unique spatio-temporal diffusion modalities as well as nano-environment organization for each channel subunit [65].
Kv7 channel inhibition increases hypoxic pulmonary vasoconstriction in endotoxemic mouse lungs
Published in Experimental Lung Research, 2020
Maurizio Turzo, Fabian A. Spöhr, Lasitschka Felix, Markus A. Weigand, Cornelius J. Busch
Then, KCNE1-5 gene expressions were measured in extracts of whole mouse lungs with and without endotoxemia. Pulmonary KCNE3 gene expression was up-regulated after 18 h of endotoxemia (3.1 ± 1.3-fold, Figure 2B), other KCNE subunits were not altered by endotoxemia (Figure 2B; KCNE1 LPS 0.8 ± 0.2-fold, KCNE2 LPS 1.4 ± 0.6-fold, KCNE4 LPS 2.0 ± 1.1-fold, KCNE5 LPS 1.2 ± 0.7-fold, all n.s.).