Genetic and cellular mechanisms of the formation of esophageal atresia and tracheoesophageal fistula

Dis Esophagus. 2013 May-Jun;26(4):356-8. doi: 10.1111/dote.12055.

Abstract

Foregut separation involves dynamic changes in the activities of signaling pathways and transcription factors. Recent mouse genetic studies demonstrate that some of these pathways interact with each other to form a complex network, leading to a unique dorsal-ventral patterning in the early foregut. In this review, it is discussed how this unique dorsal-ventral patterning is set prior to the foregut separation and how disruption of this patterning affects the separation process. Roles of downstream targets of these pathways in regulating separation at cellular and molecular levels would be discussed further. Understanding the mechanism of normal separation process will provide insights into the pathobiology of a relatively common birth defect, esophageal atresia with/without tracheoesophageal fistula.

Publication types

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

MeSH terms

  • Animals
  • Biomarkers / metabolism
  • Bone Morphogenetic Proteins / genetics
  • Bone Morphogenetic Proteins / metabolism
  • Esophageal Atresia / embryology*
  • Esophageal Atresia / genetics
  • Esophageal Atresia / metabolism
  • Gene Expression Regulation, Developmental*
  • Hedgehog Proteins / genetics
  • Hedgehog Proteins / metabolism
  • Humans
  • Mice
  • Mutation
  • SOXB1 Transcription Factors / genetics
  • SOXB1 Transcription Factors / metabolism
  • Tracheoesophageal Fistula / embryology*
  • Tracheoesophageal Fistula / genetics
  • Tracheoesophageal Fistula / metabolism
  • Wnt Signaling Pathway / physiology

Substances

  • Biomarkers
  • Bone Morphogenetic Proteins
  • Hedgehog Proteins
  • SOX2 protein, human
  • SOXB1 Transcription Factors
  • Sox2 protein, mouse

Supplementary concepts

  • Esophageal atresia with or without tracheoesophageal fistula