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DOT1L Drives Endothelial-to-Mesenchymal Transition and Fibrotic Vascular Remodeling via H3K79 Methylation.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)2026-04-05PubMed
Total: 85.5Rigor: 9Innovation: 9Journal: 8Clinical: 7

Summary

This mechanistic study identifies DOT1L-mediated H3K79 methylation as a central epigenetic driver of EndoMT and pulmonary fibrosis. TGFβ-SMAD2 upregulates DOT1L, increasing H3K79me2 at fibrosis genes; endothelial Dot1L deletion attenuates bleomycin-induced fibrosis in mice.

Key Findings

  • TGFβ stimulation increases DOT1L and H3K79me2 during EndoMT in endothelial cells.
  • SMAD2 directly binds the DOT1L promoter, promoting H3K79me2 deposition at fibrosis gene loci.
  • Endothelial-specific Dot1L deletion reduces fibrotic remodeling and collagen deposition in bleomycin-induced pulmonary fibrosis.

Clinical Implications

While preclinical, DOT1L inhibition could emerge as a novel antifibrotic strategy in idiopathic pulmonary fibrosis and related conditions, informing biomarker-guided trials targeting EndoMT.

Why It Matters

It reveals a druggable epigenetic axis linking TGFβ signaling to transcriptional activation of fibrotic programs via H3K79me2, providing a concrete target (DOT1L) for antifibrotic therapy.

Limitations

  • Sample sizes and detailed quantitative effect sizes are not reported in the abstract
  • Translatability to human disease and on-target safety of DOT1L inhibition remain to be established

Future Directions

Develop selective DOT1L inhibitors; define EndoMT biomarkers of target engagement; test combination strategies with TGFβ/SMAD modulators in preclinical fibrosis models and early-phase trials.

Study Information

Study Type
Basic/mechanistic study
Research Domain
Pathophysiology
Evidence Level
V - Preclinical mechanistic evidence from in vitro and animal models
Study Design
OTHER