SLFN14 ribosomopathy and platelet dysfunction
Blood(2023)
摘要
In this issue of Blood , Ver Donck et al,1 investigated a dominantly inher-ited platelet defect with a mild-to-moderate bleeding diathesis in a family due to a mutation in SLFN14,1, 2 which is involved in RNA degradation, especially ribosomal RNA (rRNA) but also transfer RNA (tRNA) and messenger RNA (mRNA).2, 3 The authors demonstrate a loss of rRNA in platelets in affected family members and studied the other consequences of this mutation.1 These findings offer insights into how a potential endoribonuclease SLFN14 may affect megakaryocyte development, and have pleiotropic effects on both megakaryocytes and platelets. The study also suggests a potential therapeutic target for these patients, with implications for understanding the differentiation of large, polyploidy megakaryocytes. Overall, the molecular bases of inherited platelet dis-orders continue to provide valuable insights into megakaryocyte and platelet biology.
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关键词
ribosomopathy,platelet dysfunction
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