To print: Select File and then Print from your browser's menu --------------------------------------------------------------------------------------- Title: Researchers Identify Gene Responsible for Congenital Tufting Enteropathy (CTE) URL: http://www.pslgroup.com/dg/226506.htm Doctor's Guide July 24, 2008
SAN DIEGO -- July 24, 2008 -- Researchers have identified the chromosomal abnormality that causes congenital tufting enteropathy (CTE), according to a study that will appear in the August 2008 issue of Gastroenterology. Despite its grave complications, there has been little understanding about what causes this disorder. Very few infants and children are diagnosed -- perhaps only a dozen in the United States -- 2 of whom happened to be treated at the University of California, San Diego (UCSD) Rady Children's Hospital, San Diego, California. Mamata Sivagnanam, MD, Division of Pediatric Gastroenterology, Hepatology and Nutrition, UCSD School of Medicine, and Rady Children's Hospital, and colleagues were treating a young infant with severe diarrhoea in the neonatal intensive care unit and diagnosed him with CTE. At the same time, they were treating this rare disorder in another child who was aged 1.5 years at the time and noticed that they both had the same, uncommon last name. "It turned out that these 2 children were what is called double second cousins," Dr. Sivagnanam said, meaning that the 2 mothers are first cousins and so are the 2 fathers -- sharing a common set of grandparents. "We suspected that this was a heritable disease, but these 2 families, unknown to one another, each had a child with CTE. This unique familial relationship enabled us to isolate the chromosome mutated in the disorder." Using genetic testing to determine single nucleotide polymorphisms (SNPs), the researchers determined that mutation of a molecule known as the epithelial cell adhesion molecule, or EpCAM, is the cause of CTE. "We hope that this information will allow us to not only understand what causes this disease but eventually lead to further advances in its diagnosis and treatment," said Dr. Sivagnanam. "By understanding the role of EpCAM in the intestine, it may also lead to better understanding of diseases such as colon cancer and inflammatory bowel disease." SOURCE: University of California, San Diego --------------------------------------------------------------------------------------------- Copyright © 1999 P\S\L Consulting Group Inc. All rights reserved. Republication or redistribution of P\S\L content is expressly prohibited without the prior written consent of P\S\L. P\S\L shall not be liable for any errors, omissions or delays in this content or any other content on its sites, newsletters or other publications, nor for any decisions or actions taken in reliance on such content. --------------------------------------------------------------------------------------------- This news story was printed from *Doctor's Guide to the Internet* located at http://www.docguide.com --------------------------------------------------------------------------------------- Return to News Story Page This site is maintained by webmaster@pslgroup.com Please contact us with any comments, problems or bugs. All contents Copyright (c) 1998 P\S\L Consulting Group Inc. All rights reserved.