Version 1
: Received: 15 September 2023 / Approved: 15 September 2023 / Online: 18 September 2023 (07:17:25 CEST)
How to cite:
Abramochkin, D.; Li, B.; Zhang, H.; Kravchuk, E.; Nesterova, T.; Glukhov, G.; Shestak, A.; Zaklyazminskaya, E.; Sokolova, O.S. Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in Patient with Brugada Syndrome and Mild QTc Shortening. Preprints2023, 2023091085. https://doi.org/10.20944/preprints202309.1085.v1
Abramochkin, D.; Li, B.; Zhang, H.; Kravchuk, E.; Nesterova, T.; Glukhov, G.; Shestak, A.; Zaklyazminskaya, E.; Sokolova, O.S. Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in Patient with Brugada Syndrome and Mild QTc Shortening. Preprints 2023, 2023091085. https://doi.org/10.20944/preprints202309.1085.v1
Abramochkin, D.; Li, B.; Zhang, H.; Kravchuk, E.; Nesterova, T.; Glukhov, G.; Shestak, A.; Zaklyazminskaya, E.; Sokolova, O.S. Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in Patient with Brugada Syndrome and Mild QTc Shortening. Preprints2023, 2023091085. https://doi.org/10.20944/preprints202309.1085.v1
APA Style
Abramochkin, D., Li, B., Zhang, H., Kravchuk, E., Nesterova, T., Glukhov, G., Shestak, A., Zaklyazminskaya, E., & Sokolova, O.S. (2023). Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in Patient with Brugada Syndrome and Mild QTc Shortening. Preprints. https://doi.org/10.20944/preprints202309.1085.v1
Chicago/Turabian Style
Abramochkin, D., Elena Zaklyazminskaya and Olga S. Sokolova. 2023 "Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in Patient with Brugada Syndrome and Mild QTc Shortening" Preprints. https://doi.org/10.20944/preprints202309.1085.v1
Abstract
Brugada syndrome (BrS) is an inherited disease characterized by right precordial ST-segment elevation on electrocardiograms (ECGs), and a high risk of life-threatening ventricular arrhyth-mia and sudden cardiac death. In BrS patients, except for SCN5A, mutations in other responsible genes are poorly elucidated. We identified a new missense mutation, c.1189C>T (p.R397C), in the KCNH2 gene in asymptomatic male proband with diagnosed BrS. We performed patch-clamp analysis on I(Kr) reconstituted with this KCNH2 mutation in Chinese hamster ovary cells and compared the phenotype with the wild type. We found that the R397C mutation increased the I(Kr) density. In silico modeling demonstrated that this missense mutation potentially leads to the shortening of action potential in the heart.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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