J.Jpn. Surg. Soc.. 100(6): 384-387, 1999

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Feature topic

RECENT PROGRESS IN PATHOGENESIS OF HIRSCHSPRUNG DISEASE

Recent progress in genetic science has rapidly updated our understanding of the pathogenesis and genetic background of Hirschsprung’s disease (HD). Newly developed techniques like organ culture, genetic perturbation, and genetic knockout mice have benefited approaches to the pathogenesis of the disease. Genetic analysis of transgenic or natural mouse strains with congenital megacolon has led to mutation screening in HD patients. The known disease genes include tyrosine kinase receptor Ret, endothelin receptor B, and its ligand endothelin 3. In addition, mutations have been found in the gene encoding the glial cell line-derived neurotrophic factor, the ligand for Ret, and Sry-related protein Sox10. Aggregation chimeras also demonstrate an important rule of microenvironmental signals. The mouse models have also provided insight into the developmental mechanisms of normal intestinal innervation. An increasing number of studies have presented much new information adding to the classical theory. We introduce here recent reports on gene mutations in HD and the pathogenesis of this multigenic-multifactorial disease. These data form the foundation for future clinical approaches to HD and other intestinal motility disorders.

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