FUNKČNÍ DOPAD VARIANTY S1021Qfs*98-hERG ASOCIOVANÉ S IDIOPATICKOU FIBRILACÍ KOMOR

• Title in English: Fuctional impact of S1021Qfs*98-hERG variant associated with the idiopathic ventricular fibrillation
• Authors: JANKOVÁ Natálie; KRÁL Martin; ŠVECOVÁ Olga; PACHERNÍK Jiří; NOVOTNÝ Tomáš; BÉBAROVÁ Markéta
• Year of publication: 2024
• Type: Conference abstract
• MU Faculty or unit: Faculty of Medicine
• Citation: JANKOVÁ, Natálie, Martin KRÁL, Olga ŠVECOVÁ, Jiří PACHERNÍK, Tomáš NOVOTNÝ and Markéta BÉBAROVÁ. FUNKČNÍ DOPAD VARIANTY S1021Qfs*98-hERG ASOCIOVANÉ S IDIOPATICKOU FIBRILACÍ KOMOR (Fuctional impact of S1021Qfs*98-hERG variant associated with the idiopathic ventricular fibrillation). In 67. Studentská vědecká konference LF MU. 2024.
• Description: A decrease of the examined current by 70 % was observed which suggested the loss-of-function character of the genetic variant S1021Qfs*98-hERG. Since no significant changes have been observed in the time and voltage dependence of channel activation and in the time course of deactivation, the cause of the current decrease is unclear. We expect a change in the channel total or surface expression, which will be tested. Subsequently, the arrhythmogenic potential of the second variant, A228V-hERG, and of both variants expressed simultanbeously will be tested.

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