Clinical expression of Hirschsprung disease (HSCR) requires the interaction of multiple susceptibility genes. Molecular genetic analyses have revealed that interactions between mutations in the genes encoding the RET receptor tyrosine kinase and the endothelin receptor type B (EDNRB) are central to the genesis of HSCR. We have established two locus noncomplementation assays in mice, using allel...

The Hirschsprung’s disease (HD) is characterized by absence of ganglion cells in the Myentric and Meissners plexus’ with nerve bundle hyperplasia [1,2]. The surgery for HD is changed from multistage surgery to single stage. Further, till date the superiority of either Duhamel, Swenson or soave procedure is comparable. It is unclear if one of these techniques yields significantly better general ...

The enteric nervous system (ENS) is composed of neurons and glial cells, organized as interconnected ganglia within the gut wall, which controls peristalsis of the gut wall and secretions from its glands. The Ret receptor tyrosine kinase is expressed throughout enteric neurogenesis and is required for normal ENS development; humans with mutations in the RET locus have Hirschsprung disease (HSCR...

piebald (s) is a recessive mutation that affects the development of two cell types of neural crest origin: the melanocytes, responsible for pigment synthesis in the skin, and enteric ganglia, which innervate the lower bowel. As a result, mice carrying piebald mutations exhibit white spotting in the coat and aganglionic megacolon. Previously the gene had been localized to the distal half of mous...

PURPOSE The term benign transient non-organic ileus of neonates (BTNIN) is applied to neonates who present symptoms and plain radiographic findings of Hirschsprung's disease, but do not have aganglionic bowel and are managed well by conservative treatment. It can often be difficult to diagnose BTNIN because its initial symptoms are similar to those of Hirschsprung's disease. The aim of this stu...

OBJECTIVE Bone morphogenetic proteins (BMPs) are members of the transforming growth factor β (TGF β) superfamily. BMP2, BMP5 and BMP10 exert their biological functions by interacting with membrane bound receptors belonging to the serine/threonine kinase family. Hirschsprung disease (HSCR) is characterized by the absence of intramural ganglion cells in the nerve plexuses of the distal gut. Howev...

Waardenburg syndrome (WS) is a neurocristopathy disorder combining sensorineural deafness and pigmentary abnormalities. The presence of additional signs defines the 4 subtypes. WS type IV, also called Shah-Waardenburg syndrome (SWS), is characterized by the association with congenital aganglionic megacolon (Hirschsprung disease). To date, 3 causative genes have been related to this congenital d...

The autonomic nervous system innervates normal bowel in a complicated manner. Study of these nerves has been facilitated by histochemical techniques which enable separate identification of adrenergicand acetylcholinesterase (AChE)-containing nerves. The latter are usually considered to be cholinergic, and while their presence in the muscle layers of the bowel wall is well known, little attentio...

The enteric nervous system (ENS) derives from neural crest, which invade and migrate along the developing gut, proliferate extensively, and differentiate into neurons and glial cells organized as interconnected ganglia that control complex behaviours of the gut, such as peristalsis. While most ENS progenitors undergo differentiation, cells exhibiting properties of enteric progenitor cells (EPCs...