Varianta v genu CYCS způsobující trombocytopenii 4 zvyšuje kaspázovou aktivitu.
| Title in English | A variant in the CYCS gene causing thrombocytopenia 4 increases caspase activity. |
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| Year of publication | 2023 |
| Type | Conference abstract |
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| Description | Congenital thrombocytopenias are a heterogeneous group of rare diseases. They arise as a result of genetic variants in more than 40 genes involved in megakaryopoiesis and thrombopoiesis, including the CYCS gene encoding cytochrome c (Cysc). Cysc is also involved in cellular respiration and activation of caspases, thereby initiating apoptosis. So far, six different variants in the CYCS gene have been described causing a mild form of the disease - thrombocyxtopenia type 4. Here we present the variant NP_061820.1:p(Thr2%Ile) in the CYCS gene identified by whole-exon sequencing and its functional impact. The variant segregates with thrombocytopenia in three generations in four members of a Czech family. Using CRISPR/Cas9 technology, the CYCS gene was genetically modified to the identified variant p.(Thr20Ile) in the human megakaryoblastic cell line MEG-01. |
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