Discovery of first-in-class inhibitors of ASH1L histone methyltransferase with anti-leukemic activity

Nat Commun. 2021 May 14;12(1):2792. doi: 10.1038/s41467-021-23152-6.

Abstract

ASH1L histone methyltransferase plays a crucial role in the pathogenesis of different diseases, including acute leukemia. While ASH1L represents an attractive drug target, developing ASH1L inhibitors is challenging, as the catalytic SET domain adapts an inactive conformation with autoinhibitory loop blocking the access to the active site. Here, by applying fragment-based screening followed by medicinal chemistry and a structure-based design, we developed first-in-class small molecule inhibitors of the ASH1L SET domain. The crystal structures of ASH1L-inhibitor complexes reveal compound binding to the autoinhibitory loop region in the SET domain. When tested in MLL leukemia models, our lead compound, AS-99, blocks cell proliferation, induces apoptosis and differentiation, downregulates MLL fusion target genes, and reduces the leukemia burden in vivo. This work validates the ASH1L SET domain as a druggable target and provides a chemical probe to further study the biological functions of ASH1L as well as to develop therapeutic agents.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Antineoplastic Agents / chemistry
  • Antineoplastic Agents / pharmacology*
  • Catalytic Domain / drug effects
  • Catalytic Domain / genetics
  • Cell Line, Tumor
  • Cell Transformation, Neoplastic / drug effects
  • Cell Transformation, Neoplastic / genetics
  • Crystallography, X-Ray
  • DNA-Binding Proteins / antagonists & inhibitors*
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics
  • Drug Design
  • Drug Discovery
  • Enzyme Inhibitors / chemistry
  • Enzyme Inhibitors / pharmacology*
  • Female
  • Histone-Lysine N-Methyltransferase / antagonists & inhibitors*
  • Histone-Lysine N-Methyltransferase / chemistry
  • Histone-Lysine N-Methyltransferase / genetics
  • Humans
  • Leukemia / drug therapy*
  • Leukemia / enzymology*
  • Leukemia / genetics
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Models, Molecular
  • Myeloid-Lymphoid Leukemia Protein / genetics
  • Oncogenes
  • Protein Domains
  • Recombinant Fusion Proteins / genetics

Substances

  • Antineoplastic Agents
  • DNA-Binding Proteins
  • Enzyme Inhibitors
  • KMT2A protein, human
  • Recombinant Fusion Proteins
  • Myeloid-Lymphoid Leukemia Protein
  • ASH1L protein, human
  • Ash1l protein, mouse
  • Histone-Lysine N-Methyltransferase
  • Kmt2a protein, mouse