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 /ADVANCE/ PITTSBURGH, July 30 /PRNewswire/ -- Researchers from the University of Pittsburgh Graduate School of Public Health (GSPH) have mapped a gene responsible for Hirschsprung disease (congenital megacolon) to human chromosome 10, according to a paper published in the August issue of Nature Genetics.
 Hirschsprung disease (HSCR) is a birth defect that affects one in every 5,000 live births. It is associated with an absence of nerve cells in a section of the intestinal tract, usually in the colon. During embryonic development, nerve cells migrate into and populate the gut. Interruption of this process is thought to lead to HSCR. Children with HSCR frequently have intestinal blockage and abdominal distension. They cannot move their bowels beyond the affected segment of the intestine and therefore cannot eliminate waste from the body. Although surgically treatable, many patients develop potentially life-threatening complications.
 One of the study's authors believes the finding to have important implications for both clinicians and basic scientists.
 "First of all, accurate and early diagnosis can provide advance warning by allowing surgeons to prepare and therefore reduce morbidity and mortality associated with the disease," said Aravinda Chakravarti, Ph.D., professor of human genetics and psychiatry, Pitt GSPH and principal investigator of a five-year study of the disease funded by the National Institutes of Health.
 "Second, the eventual isolation of the chromosome 10-linked gene and the elucidation of its function will provide insight into why patients have the symptoms that they do. Third, after it is cloned, analysis of this gene and its protein product should tell us basic information about the early development of nerve cells and the gut," said Chakravarti.
 Chakravarti and his research team, including graduate students Misha Angrist and Erik Puffenberger and family studies coordinators Erick Kauffman and Stacy Bolk, have collected information on 209 affected individuals from more than 120 families. They are currently studying blood samples from several large families in an effort to more precisely determine the location of this gene.
 "Previously, while people recognized that the disease often tended to run in families, it was believed that HSCR was caused by a combination of many genes and the environment. We've now shown that, at least for many families, inheriting a single defective gene is sufficient to cause HSCR. However, it is important to keep in mind that this gene may account for less than half of all cases. Our challenges are to isolate and characterize the gene on chromosome 10 and to localize other genes that lead to Hirschsprung disease," said Chakravarti.
 The Pitt paper and an accompanying one published by an Italian group in the same issue of Nature Genetics represent the first evidence of a purely genetic form of the disease.
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 /CONTACT: Suzie Hunt or Lauren Ward of Health Sciences News Bureau, 412-624-2607, or fax, 412-624-3184/

CO: University of Pittsburgh Graduate School of Public Health ST: Pennsylvania IN: HEA SU:

CD -- PG001 -- 7590 07/30/93 08:03 EDT
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Publication:PR Newswire
Date:Jul 30, 1993

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