IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics

Nature. 2012 Aug 30;488(7413):656-9. doi: 10.1038/nature11323.

Abstract

Mutations in the IDH1 and IDH2 genes encoding isocitrate dehydrogenases are frequently found in human glioblastomas and cytogenetically normal acute myeloid leukaemias (AML). These alterations are gain-of-function mutations in that they drive the synthesis of the ‘oncometabolite’ R-2-hydroxyglutarate (2HG). It remains unclear how IDH1 and IDH2 mutations modify myeloid cell development and promote leukaemogenesis. Here we report the characterization of conditional knock-in (KI) mice in which the most common IDH1 mutation, IDH1(R132H), is inserted into the endogenous murine Idh1 locus and is expressed in all haematopoietic cells (Vav-KI mice) or specifically in cells of the myeloid lineage (LysM-KI mice). These mutants show increased numbers of early haematopoietic progenitors and develop splenomegaly and anaemia with extramedullary haematopoiesis, suggesting a dysfunctional bone marrow niche. Furthermore, LysM-KI cells have hypermethylated histones and changes to DNA methylation similar to those observed in human IDH1- or IDH2-mutant AML. To our knowledge, our study is the first to describe the generation and characterization of conditional IDH1(R132H)-KI mice, and also the first report to demonstrate the induction of a leukaemic DNA methylation signature in a mouse model. Our report thus sheds light on the mechanistic links between IDH1 mutation and human AML.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aging
  • Animals
  • Bone Marrow / pathology
  • Cell Lineage
  • CpG Islands / genetics
  • DNA Methylation
  • Disease Models, Animal
  • Epigenesis, Genetic / genetics*
  • Female
  • Gene Knock-In Techniques
  • Glioma / pathology
  • Hematopoiesis
  • Hematopoietic Stem Cells / cytology*
  • Hematopoietic Stem Cells / metabolism
  • Histones / metabolism
  • Humans
  • Isocitrate Dehydrogenase / genetics*
  • Isocitrate Dehydrogenase / metabolism*
  • Leukemia, Myeloid, Acute / genetics
  • Male
  • Mice
  • Mutant Proteins / genetics
  • Mutant Proteins / metabolism*
  • Mutation / genetics*
  • Myeloid Cells / cytology
  • Myeloid Cells / metabolism
  • Spleen / pathology

Substances

  • Histones
  • Mutant Proteins
  • Isocitrate Dehydrogenase
  • IDH1 protein, human

Associated data

  • GEO/GSE38589
  • GEO/GSE38687