Identification Of Genetic Mutations That Cause Intestinal Obstruction

Identification Of Genetic Mutations That Cause Intestinal Obstruction

Main Category: GastroIntestinal / Gastroenterology
Also Included In: Genetics;  Pediatrics / Children's Health
Article Date: 06 May 2012 - 0:00 PDT

email to a friend   printer friendly   opinions   <!-- rate article

Patient / Public:

Healthcare Prof:

A research group from Ben-Gurion University of the Negev (BGU) and Soroka University Medical Center led by Prof. Ohad Birk has discovered genetic mutations that lead to intestinal blockages in newborns from two Bedouin tribes in Israel.

The new paper published in the American Journal of Human Genetics identifies mutations in gene GUCY2C that abrogates its function. The mutations were identified in two different Negev Bedouin tribes where there were instances of intestinal obstructions in newborns without any of the other effects of Cystic Fibrosis (CF). The GUCY2C gene is known to activate the CF gene and expresses solely in the intestine.

According to the researchers, "Mutations in the GUCY2C gene might serve to protect against diarrheal infections such as E.coli. Unlike normal laboratory mice that die of severe diarrhea when infected with E.coli. bacteria, mice with a GUCY2C mutation do not. Apparently, the mutation might have evolved in the Bedouin to make them more immune to diarrheal diseases and the loss of fluids in their harsh desert climate."

Prof. Birk's group is continuing the research to determine whether more subtle changes in this gene control the tendency for diarrhea or constipation in the population at large. So far, his research group has discovered the genetic mutations that lead to more than 20 diseases in human beings. Birk is the head of BGU's Morris Kahn Laboratory of Human Genetics in the National Institute for Biotechnology in the Negev and of the Genetics Institute at Soroka University Medical Center.

• Additional
• References
• Citations

Please use one of the following formats to cite this article in your essay, paper or report:

MLA

---

APA

---

Please note: If no author information is provided, the source is cited instead.

---

Add Your Opinion On This Article

'Identification Of Genetic Mutations That Cause Intestinal Obstruction'

Please note that we publish your name, but we do not publish your email address. It is only used to let you know when your message is published. We do not use it for any other purpose. Please see our privacy policy for more information.

If you write about specific medications or operations, please do not name health care professionals by name.

All opinions are moderated before being included (to stop spam)

Contact Our News Editors

For any corrections of factual information, or to contact the editors please use our feedback form.

Please send any medical news or health news press releases to:

Note: Any medical information published on this website is not intended as a substitute for informed medical advice and you should not take any action before consulting with a health care professional. For more information, please read our terms and conditions.

Privacy Policy | Terms and Conditions

MediLexicon International Ltd
Bexhill-on-Sea, United Kingdom
MediLexicon International Ltd © 2004-2012 All rights reserved.