To clarify pathogenetic mechanisms of congenital malformations of the ENS, the
formation of the ENS was investigated in chicken and murine embryos. The
experimental work was concentrated on several aspects of the interaction between neural
crest cells and the enteric microenvironment. We investigated (a) whether enteric neural
crest cells are sensitive to ischemia; (b) whether the migration substrates in aneuronal
bowel persist when neural crest cell colonization is postponed; (c) when neural crest
cells colonize various parts of murine bowel; (d) when and where the Is/Is gene affects
neural crest cell colonization; (e) which axial level of the neuraxis provides precursor
cells for enteric neurons; (f) how neural crest cells are directed to the future sites of the
enteric ganglia; (g) whether neural crest cells proliferate during, migration and homing
in the bowel.
Hirschsprung's disease has a heterogeneous etiology that has been related to
genetic, chromosomal, and other yet unknown factors. Family studies suggest genetic
factors in the etiology of Hirschsprung's disease but there is little evidence of simple
Mendelian inheritance. It seems that Hirschsprung's disease is an example of sexmodified
multifactorial inheritance
