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Fox Chase discovery may help physicians diagnose, treat devastating childhood disease

Researchers at Fox Chase Cancer Center have made a crucial discovery that may help physicians better diagnose and treat children with Hirschsprung disease, a debilitating and sometimes life-threatening ailment that causes bowel obstruction and involves an array of genetic changes. The report will be published in the advance online publication of Nature Genetics on May 30.

Developmental biologist Myung K. Shin, Ph.D., and his colleagues have identified a critical regulatory region for the development of the enteric nervous system, which plays a vital role in gastrointestinal functions. Genetic mutations in this region may lead to incomplete development of the enteric nervous system, often causing Hirschsprung disease.

Hirschsprung disease is a hereditary disorder that affects about one in every 5,000 newborns. The disease results from the absence of neural cells, or neurons, in the large intestine, which causes severe bowel obstruction.

So far, the only treatment for this disease is early diagnosis and surgery to remove the diseased segment of the bowel. In general, the prognosis for most children after surgery is very good. However, a significant percentage of patients develop long-term complications or die of complications associated with the disease.

"Currently, ten genes or loci have been linked with Hirschsprung disease," Shin pointed out, "but these mutations do not account for a large percentage of cases."

Shin and his colleagues have isolated a regulatory region affecting the gene for endothelin receptor B (EDNRB), one of the primary genes known to be mutated in Hirschsprung disease "Now it appears that mutations in genomic sequences involved in regulating EDNRB could explain Hirschsprung disease as well," said Shin. "Our results in mice strongly suggest that the regulatory region we've discovered is a prime target for identifying potential regulatory mutations in patients with Hirschsprung disease. These mutations cou
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Contact: Karen C. Mallet
k_carter@fccc.edu
215-728-2700
Fox Chase Cancer Center
30-May-2004


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