J.Jpn. Surg. Soc.. 100(6): 379-383, 1999

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Feature topic

NEURODEVELOPMENTAL CONSIDERATIONS IN THE PATHOGENESIS OF HIRSCHSPRUNG DISEASE

In this review article, the authors introduce the current status of neurodevelopmental research on the pathogenesis of Hirschsprung disease. This congenital malformation affects 1 in 5000 live births. The absence of parasympathetic neuronal ganglia in the hindgut results in poor coordination of peristaltic movement and intestinal obstruction. Three different series of genes have been implicated in the pathogenesis of Hirschsprung disease : (1) the RET tyrosine kinase receptor gene and its ligands, the glial cell line-derived neurotrophic factor (GDNF) and neuturin (NTN) gene ; (2) the endothelin receptor B (EDNRB) gene and its ligand, endothelin-3 (EDN3) gene ; and (3) the SOX10 gene. The use of molecular genetic techniques enabled us to research possible neurodevelopment in congenital aganglionosis during embryogenesis. A targeted mutation of these genes produced multivisceral anomaly, including congenital aganglionosis of the gut, in homozygous transgenic mice.

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