Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects

Blood. 2014 Sep 18;124(12):1926-30. doi: 10.1182/blood-2014-01-550525.

Abstract

Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) is an autosomal dominant disease of the hematopoietic system that is caused by heterozygous mutations in RUNX1. FPD/AML patients have a bleeding disorder characterized by thrombocytopenia with reduced platelet numbers and functions, and a tendency to develop AML. No suitable animal models exist for FPD/AML, as Runx11/2 mice and zebra fish do not develop bleeding disorders or leukemia. Here we derived induced pluripotent stem cells (iPSCs) from 2 patients in a family with FPD/AML, and found that the FPD iPSCs display defects in megakaryocytic differentiation in vitro. We corrected the RUNX1 mutation in 1 FPD iPSC line through gene targeting, which led to normalization of megakaryopoiesis of the iPSCs in culture. Our results demonstrate successful in vitro modeling of FPD with patient-specific iPSCs and confirm that RUNX1 mutations are responsible for megakaryopoietic defects in FPD patients.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Animals
  • Blood Coagulation Disorders, Inherited / genetics*
  • Blood Coagulation Disorders, Inherited / pathology
  • Blood Coagulation Disorders, Inherited / therapy*
  • Blood Platelet Disorders / genetics*
  • Blood Platelet Disorders / pathology
  • Blood Platelet Disorders / therapy*
  • Core Binding Factor Alpha 2 Subunit / chemistry
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Gene Expression Profiling
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology
  • Induced Pluripotent Stem Cells / transplantation
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / pathology
  • Leukemia, Myeloid, Acute / therapy*
  • Mice
  • Mutation, Missense*
  • Targeted Gene Repair / methods*
  • Thrombopoiesis / genetics

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human

Supplementary concepts

  • Platelet Disorder, Familial, with Associated Myeloid Malignancy