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December 8, 2025Blood

DDX41-R525H mutation promotes dysplastic hematopoiesis via aberrant splicing of key regulators of HSC biology

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Authors

ASAxia SongNANifemi AkinwandeDSDerek L. Stirewalt

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Overview

Observational analysis reveals DDX41-R525H mutation alters splicing in acute myeloid leukemia, suggesting new therapeutic targets may improve treatment outcomes.

Key Points

  • DDX41-R525H mutation impairs hematopoiesis through altered splicing of key regulators.
  • Data shows that 500 transcripts are mis-spliced in acute myeloid leukemia cells harboring this mutation.
  • The analysis utilized ribosome biogenesis and RNA splicing to unravel functional differences in mutations.
  • Identification of SEPTIN7 mis-splicing may enable targeted therapies for patients with DDX41-mutant acute myeloid leukemia.

Cite This Study

Song et al. (2025) studied this question.

synapsesocial.com/papers/69362f4e4fa91c937236d8c8https://doi.org/10.1182/blood-2025-677
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Granulocyte maturation and splicing defects in DDX41-mutated leukemia2025
  2. 2The somatic DDX41 hot spot mutation (p.R525H) causes skewed differentiation into plasmacytoid dendritic cells in human iPSC and leukemia models2025
  3. 3The somatic hotspot mutation of DDX41 (p.R525H) elicits dominant-negative effects upon non-truncating germline variants, explaining similar disease risk as truncating variants.2025
  4. 4Unsupervised clustering of DDX41 mutants informs on the somatic landscape of single germline hits2025
  5. 5Exploring the spectrum of non-malignant complications in germline DDX41-associated hematologic disorders2025