Deriving human ENS lineages for cell therapy and drug discovery in Hirschsprung disease

Nature. 2016 Mar 3;531(7592):105-9. doi: 10.1038/nature16951. Epub 2016 Feb 10.

Abstract

The enteric nervous system (ENS) is the largest component of the autonomic nervous system, with neuron numbers surpassing those present in the spinal cord. The ENS has been called the 'second brain' given its autonomy, remarkable neurotransmitter diversity and complex cytoarchitecture. Defects in ENS development are responsible for many human disorders including Hirschsprung disease (HSCR). HSCR is caused by the developmental failure of ENS progenitors to migrate into the gastrointestinal tract, particularly the distal colon. Human ENS development remains poorly understood owing to the lack of an easily accessible model system. Here we demonstrate the efficient derivation and isolation of ENS progenitors from human pluripotent stem (PS) cells, and their further differentiation into functional enteric neurons. ENS precursors derived in vitro are capable of targeted migration in the developing chick embryo and extensive colonization of the adult mouse colon. The in vivo engraftment and migration of human PS-cell-derived ENS precursors rescue disease-related mortality in HSCR mice (Ednrb(s-l/s-l)), although the mechanism of action remains unclear. Finally, EDNRB-null mutant ENS precursors enable modelling of HSCR-related migration defects, and the identification of pepstatin A as a candidate therapeutic target. Our study establishes the first, to our knowledge, human PS-cell-based platform for the study of human ENS development, and presents cell- and drug-based strategies for the treatment of HSCR.

Publication types

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

MeSH terms

  • Aging
  • Animals
  • Cell Differentiation
  • Cell Line
  • Cell Lineage*
  • Cell Movement
  • Cell Separation
  • Cell- and Tissue-Based Therapy* / methods
  • Chick Embryo
  • Colon / drug effects
  • Colon / pathology
  • Disease Models, Animal
  • Drug Discovery / methods*
  • Enteric Nervous System / pathology*
  • Female
  • Gastrointestinal Tract / drug effects
  • Gastrointestinal Tract / pathology
  • Hirschsprung Disease / drug therapy*
  • Hirschsprung Disease / pathology*
  • Hirschsprung Disease / therapy
  • Humans
  • Male
  • Mice
  • Neurons / drug effects
  • Neurons / pathology*
  • Pepstatins / metabolism
  • Pluripotent Stem Cells / pathology
  • Receptor, Endothelin B / metabolism
  • Signal Transduction

Substances

  • EDNRB protein, human
  • Pepstatins
  • Receptor, Endothelin B
  • pepstatin

Associated data

  • GEO/GSE66148