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| Description
| - Diamond-Blackfan anemia (DBA) is a rare congenital pure red cell aplasia characterized by normochromic macrocytic anemia, reticulocytopenia, and normocellular bone marrow with a selective deficiency of erythroid precursors. Ribosomal protein S19 (RPS19), currently the only gene associated with DBA, is mutated in 25% of DBA patients, but its role in erythropoiesis is unknown. We attempted to elucidate the importance of RPS19 in translation in relation to the pathogenesis of DBA. We measured translation and proliferation rates in unstimulated and phytohemagglutinin (PHA)-stimulated lymphocytes isolated from DBA patients, as well as in K562 cells expressing several RPS19 mutants to directly test the effect of RPS19 mutations on translation. The effect of leucine on overall translation was also studied. We found that the level of translation was on average 48-73% of controls in both unstimulated and PHA-activated DBA lymphocytes irrespective of mutations in RPS19. The addition of leucine
- Diamond-Blackfan anemia (DBA) is a rare congenital pure red cell aplasia characterized by normochromic macrocytic anemia, reticulocytopenia, and normocellular bone marrow with a selective deficiency of erythroid precursors. Ribosomal protein S19 (RPS19), currently the only gene associated with DBA, is mutated in 25% of DBA patients, but its role in erythropoiesis is unknown. We attempted to elucidate the importance of RPS19 in translation in relation to the pathogenesis of DBA. We measured translation and proliferation rates in unstimulated and phytohemagglutinin (PHA)-stimulated lymphocytes isolated from DBA patients, as well as in K562 cells expressing several RPS19 mutants to directly test the effect of RPS19 mutations on translation. The effect of leucine on overall translation was also studied. We found that the level of translation was on average 48-73% of controls in both unstimulated and PHA-activated DBA lymphocytes irrespective of mutations in RPS19. The addition of leucine (en)
- Diamondova-Blackfanova anémie (DBA) je vzácná kongenitální aplázie červených krvinek, která je charakterizována normochromní makrocytární anémií, reticulocytopénií a normocelulární kostní dření se selektivní deficiencí erytroidních prekurzorů. Ribosomální protein S19 (RPS19), v současnosti jediný gen asociovaný s DBA, je mutován u 25% pacientů s DBA, ale jeho role v erytropoéze zůstává zatím nevyjasněna. Cílem bylo definovat důležitost RPS19 v translaci ve vztahu k patogenezi DBA. NÁVRH A METODY. Byla měřena rychlost translace a proliferace u nestimulovaných lymfocytů a lymfocytů stimulovaných fytohemaglutininem (PHA), které byly isolovány od pacientů s DBA. Rychlost translace a proliferace byla také měřena u buněk K562, které exprimovaly několik mutant RPS19, aby byl zjištěn přímý vliv mutací v RPS19 na translaci. Byl také sledován vliv leucinu na celkovou translaci. VÝSLEDKY. Zjistili jsme, že úroveň translace byla u nestimulovaných i PHA-stimulovaných DBA lymfocytů v průměru 48-73% (cs)
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| Title
| - Translational efficiency in patients with Diamond-Blackfan anemia
- Účinnost translace u pacientů s Diamondovou-Blackfanovou anémií (cs)
- Translational efficiency in patients with Diamond-Blackfan anemia (en)
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| skos:prefLabel
| - Translational efficiency in patients with Diamond-Blackfan anemia
- Účinnost translace u pacientů s Diamondovou-Blackfanovou anémií (cs)
- Translational efficiency in patients with Diamond-Blackfan anemia (en)
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| skos:notation
| - RIV/00023736:_____/06:00006721!RIV07-MZ0-00023736
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| http://linked.open.../vavai/riv/strany
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
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| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
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| http://linked.open...ai/riv/idVysledku
| - RIV/00023736:_____/06:00006721
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
| - Diamond-Blackfan anemia; DBA; ribosomal protein S19; RPS19; translation; proliferation; leucin (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
| - Haematologica/The Hematology Journal
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| http://linked.open...in/vavai/riv/obor
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| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
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| http://linked.open...UplatneniVysledku
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| http://linked.open...v/svazekPeriodika
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| http://linked.open...iv/tvurceVysledku
| - Petrák, Jiří
- Pospíšilová, D.
- Doležalová, Ludmila
- Čmejla, Radek
- Petrtýlová, K.
- Čmejlová, Jana
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| http://linked.open...n/vavai/riv/zamer
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| issn
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| number of pages
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