A lack of intestinal pacemaker (c-kit) in aganglionic bowel of patients with Hirschsprung's disease

J Pediatr Surg. 1995 Mar;30(3):441-4. doi: 10.1016/0022-3468(95)90051-9.

Abstract

Recent experimental studies in mice have shown that the proto-oncogene c-kit plays a key role in the development of a component of the pacemaker system that is required for generation of autonomic gut motility. These studies further suggest that interaction of the c-kit receptor and its ligand (stem cell factor, SCF) is critical for the development of the enteric nervous system. The authors investigated the presence of c-kit-positive (c-kit+) cells as well as the expression of SCF in bowel from 12 patients with Hirschsprung's disease (HD), 4 patients with total colonic aganglionosis (TCA), 2 patients with extensive aganglionosis (EA) and 14 controls. Our methods involved the use of immunohistochemistry with antihuman c-kit sera and antihuman SCF sera. A few c-kit+ cells were found in the muscle layers of aganglionic bowels from HD, TCA and EA, in contrast to many c-kit+ cells in ganglionic bowel segments from control, HD, and TCA patients. Expression of SCF was identified in the muscle layers as well as in myenteric plexus of ganglionic bowel, in contrast to its absence in the muscle layers of aganglionic bowel specimens. A lack of c-kit and SCF might be of significance for autonomic gut dysmotility in aganglionic bowel segments of patients with HD and allied disorders such as chronic idiopathic intestinal pseudo-obstruction.

MeSH terms

  • Cell Adhesion Molecules / analysis*
  • Colon / chemistry*
  • Colon / innervation
  • Enteric Nervous System / chemistry
  • Enteric Nervous System / physiopathology*
  • Gene Expression
  • Hematopoietic Cell Growth Factors / analysis*
  • Hirschsprung Disease / genetics
  • Hirschsprung Disease / metabolism
  • Hirschsprung Disease / physiopathology*
  • Humans
  • Immunohistochemistry
  • Infant
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins / analysis*
  • Proto-Oncogene Proteins c-kit
  • Receptor Protein-Tyrosine Kinases / analysis*
  • Receptors, Colony-Stimulating Factor / analysis*
  • Stem Cell Factor

Substances

  • Cell Adhesion Molecules
  • Hematopoietic Cell Growth Factors
  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins
  • Receptors, Colony-Stimulating Factor
  • Stem Cell Factor
  • Proto-Oncogene Proteins c-kit
  • Receptor Protein-Tyrosine Kinases