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Directed Differentiation of Primitive and Definitive Hematopoietic Progenitors from Human Pluripotent Stem Cells
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Directed Differentiation of Primitive and Definitive Hematopoietic Progenitors from Human Pluripotent Stem Cells

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Trisomy 21-associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cells

Stella T Chou1, Marta Byrska-Bishop, Joanna M Tober

  • 1Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Proceedings of the National Academy of Sciences of the United States of America
|October 10, 2012
PubMed

Insights

Down syndrome (trisomy 21) impacts early blood development. Modeling this using stem cells revealed altered embryonic hematopoiesis with increased red blood cell production and decreased myeloid cell production.

Area of Science:

  • Hematology
  • Developmental Biology
  • Genetics

Background:

  • Patients with Down syndrome (trisomy 21) exhibit lifelong hematologic abnormalities, including neonatal blood count anomalies and preleukemia.
  • Expanded erythro-megakaryocytic precursors with increased proliferation are found in trisomy 21 fetal livers.
  • The effects of trisomy 21 on early embryonic hematopoiesis remain largely unexamined in humans.

Purpose of the Study:

  • To investigate the impact of trisomy 21 on the earliest stages of human embryonic hematopoiesis.
  • To model trisomy 21 yolk sac hematopoiesis using human induced pluripotent stem cells (iPSCs).

Main Methods:

  • Generation of human iPSCs from individuals with trisomy 21.
  • Differentiation of iPSCs into hematopoietic progenitor populations.
  • Analysis of progenitor frequency, proliferation, and developmental potential.

Main Results:

  • Trisomy 21 iPSC-derived blood progenitors were present at normal frequencies and proliferated normally.
  • Altered developmental potential was observed: enhanced erythropoiesis and reduced myelopoiesis.
  • Megakaryocyte production remained normal, and findings partially overlapped with, yet differed from, trisomy 21 fetal liver data.

Conclusions:

  • Trisomy 21 confers distinct hematopoietic defects that are dependent on developmental stage and species.
  • Human iPSCs offer a valuable model for studying early-stage normal and pathological human development, particularly hematopoiesis.

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