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.
• 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

Attached files

• Novy_dokument_Stika.pdf

• 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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