Hirschsprung's disease affects the large intestine in the human body. This disease is caused by missing nerve cells in certain segments of the colon, which in turn brings about obstruction of bowel movement. If untreated, a patient may develop enterocolitis and this could lead to death. The only way to treat Hirschsprung's disease is through surgery.
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There is strong evidence linking this disease to genetic factors. More than eight genes have been found to be associated with the disease. The majority of the cases appear to be multigenic.
A study done by M. Ruiz-Ferrer et al (2008) described the Neurotrophic Factor 3 (NTF-3) gene as one of the causal genes in Hirschsprung's disease. NTF-3 encodes for a protein growth factor which supports the survival and differentiation of neurons and synapses in the peripheral and central nervous systems. The SNP variation is postulated to produce immature functional NTF-3 proteins in neural crest cell precursors, in turn altering the NTF-3/TrkC signaling pathway and influencing inadequate Enteric Nervous System (ENS) development.
Reference: Journal of pediatric surgery
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