J Korean Assoc Pediatr Surg.  2001 Jun;7(1):15-20.

Expression of Neural Cell Adhesion Molecule (NCAM) and Glial Cell Line-Derived Neurotrophic Factor (GDNF) in Aganglionic Bowel of Hirschsprung's Disease

• Oh JT
• Han A
• Son SW
• Choi SH
• Han SJ
• Hwang EH
• Yang WI

Abstract

The pathophysiology of Hirschsprung's disease (HD) is not fully understood, but recent studies have disclosed that neural cell adhesion molecule (NCAM) and glial cell line-derived neurotrophic factor (GDNF) play important roles in the formation of aganglionic bowel of Hirschsprung's disease. To evaluate the roles of NCAM and GDNF in HD, immunohistochemical analysis was performed using formalin-fixed and paraffin-embedded tissue sections. On the basis of the results, we tried to evaluate them as diagnostic markers. The specimens were obtained from 7 patients with HD who underwent modified Duhamel operation. The diagnosis was based on the clinical findings and the absence of ganglion cells in the nerve plexuses by routine microscopy. NCAM immunoreactivity was found in the nerve plexuses and scattered nerve fibers in the smooth muscle layers of ganglionic segments. In aganglionic segments, the number of NCAM positive nerve fibers in the smooth muscle layers was significantly reduced compared with ganglionic segments. In two cases the nerve plexuses in aganglionic segments, NCAM was negligible. The smooth muscle cells showed diffuse immunoreactivity for GDNF and the staining intensity was not different in the aganglionic and ganglionic segments. However, higher expression of GDNF in the nerve plexus of the ganglionic segments was noted comparing to aganglionic segments. These data suggest that both NCAM and GDNF may play important roles in pathogenesis of Hirschsprung's disease and immunohistochemical staining for NCAM can be used as an ancillary diagnostic tool for HD.

Keyword

Hirschsprung's disease; Neural cell adhesion molecule; Glial cell line-derived neurotrophic factor

MeSH Terms

Diagnosis
Ganglion Cysts
Glial Cell Line-Derived Neurotrophic Factor*
Hirschsprung Disease*
Humans
Microscopy
Muscle, Smooth
Myocytes, Smooth Muscle
Nerve Fibers
Neural Cell Adhesion Molecules*
Neuroglia*
Glial Cell Line-Derived Neurotrophic Factor
Neural Cell Adhesion Molecules