Funkční analýza varianty S1021Qfs*98 v kanálu KCNH2 (genu hERG)
| Title in English | Functional analysis of S1021Qfs*98 variant in KCNH2 channel (hERG gene) |
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| Authors | |
| Year of publication | 2023 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | The potassium channel KCNH2, whose pore-forming subunit is encoded by the hERG gene, plays an important role in cardiac tissue repolarization. Therefore, it is often the subject of work in cardiology. In the case of loss-of-function mutations, the repolarisation of cardiac tissue is delayed, leading to prolongation of the QT interval on the electrocardiogram (associated with long QT syndrome type 2, LQT2, which accounts for 30-45% of all LQTs) and arrhythmias that can lead to sudden cardiac death. We are investigating the possible genetic basis of idiopathic ventricular fibrillation. Two mutations in KCNH2, S1021Qfs*98 and A228V, have been identified in one proband. Functional analysis of the former is the focus of this paper. |
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