Varianta v genu CYCS způsobující trombocytopenii 4 zvyšuje kaspázovou aktivitu.

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Title in English A variant in the CYCS gene causing thrombocytopenia 4 increases caspase activity.
Authors

ŠTIKA Jiří VRZALOVÁ Zuzana STAŇO KOZUBÍK Kateřina PEŠOVÁ Michaela PALUŠOVÁ Veronika DOSTÁLOVÁ Lenka BLAHÁKOVÁ Ivona RADOVÁ Lenka SEDLÁKOVÁ Petra SONNEK Radim ŠMÍDA Michal POSPÍŠILOVÁ Šárka DOUBEK Michael

Year of publication 2023
Type Conference abstract
MU Faculty or unit

Central European Institute of Technology

Citation
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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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