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Enteric nervous system: development and developmental disturbances--part 1.

Donald Newgreen1, Heather M Young

  • 1Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, 3052, Victoria, Australia.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|May 15, 2002
PubMed
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This review explores genetic and molecular factors influencing enteric nervous system (ENS) formation and its disorders, like Hirschsprung

Area of Science:

  • Developmental Biology
  • Genetics
  • Neuroscience

Background:

  • The enteric nervous system (ENS) is crucial for gastrointestinal function.
  • Defects in ENS development lead to congenital disorders such as Hirschsprung's disease (HSCR).
  • Understanding the genetic and molecular basis of ENS formation is vital for diagnosing and treating these conditions.

Purpose of the Study:

  • To review the genetic, molecular, and cell biological mechanisms underlying early embryonic ENS development.
  • To synthesize current knowledge on the genetic underpinnings of ENS developmental defects, focusing on HSCR and intestinal neuronal dysplasia type B (INDB).
  • To discuss the known genes involved in ENS formation and identify areas for future research.

Main Methods:

  • Literature review and synthesis of existing research on ENS development.

Related Experiment Videos

  • Analysis of genetic mutations and deletions associated with ENS abnormalities in human and animal models.
  • Focus on key signaling pathways, including GDNF and ET-3, and transcription factors.
  • Main Results:

    • Identified critical genes involved in ENS development, with mutations causing HSCR-like phenotypes in animal models.
    • Highlighted the significance of the GDNF and ET-3 signaling systems in ENS formation.
    • Noted that a substantial portion of HSCR cases remain genetically unexplained, indicating undiscovered genes.

    Conclusions:

    • Genetic and molecular factors play a pivotal role in the proper development of the enteric nervous system.
    • Mutations in specific genes, particularly those in the GDNF and ET-3 pathways, are strongly linked to ENS disorders.
    • Further research is needed to identify additional genes involved in ENS development to improve understanding and treatment of related diseases.