Genetic Mutations that Cause Intestinal Obstruction Identified
Genetic Mutations that Cause Intestinal Obstruction Identified
April 25, 2012
Medical Research, Press Releases
BEER-SHEVA, Israel, April 25, 2012 — 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.
In addition to the laboratory team, Dr. Daniella Landau, Baruch Yerushalmi, Suleiman Al-Krinawi, and Nitza Newman-Heiman also participated in the research. The article emerged from the doctoral research of Dr. Hila Romi in Birk’s research group. The research was supported through a grant from the Cystic Fibrosis Foundation and the Kahn Foundation.
ABOUT AMERICANS FOR BEN-GURION UNIVERSITY
By supporting a world-class academic institution that not only nurtures the Negev, but also shares its expertise locally and globally, Americans for Ben-Gurion University engages a community of Americans who are committed to improving the world. David Ben-Gurion envisioned that Israel’s future would be forged in the Negev. The cutting-edge research carried out at Ben-Gurion University drives that vision by sustaining a desert Silicon Valley, with the “Stanford of the Negev” at its center. The Americans for Ben-Gurion University movement supports a 21st century unifying vision for Israel by rallying around BGU’s remarkable work and role as an apolitical beacon of light in the Negev desert.
About Ben-Gurion University of the Negev
Ben-Gurion University of the Negev embraces the endless potential we have as individuals and as a commonality to adapt and to thrive in changing environments. Inspired by our location in the desert, we aim to discover, to create, and to develop solutions to dynamic challenges, to pose questions that have yet to be asked, and to push beyond the boundaries of the commonly accepted and possible.
We are proud to be a central force for inclusion, diversity and innovation in Israel, and we strive to extend the Negev’s potential and our entrepreneurial spirit throughout the world. For example, the multi-disciplinary School for Sustainability and Climate Change at BGU leverages over 50 years of expertise on living and thriving in the desert into scalable solutions for people everywhere.
BGU at a glance:
20,000 students | 800 senior faculty | 3 campuses | 6 faculties: humanities & social sciences, health sciences, engineering sciences, natural sciences, business & management, and desert research.
For all press inquiries, please contact:
James Fattal, J Cubed Communications
516.289.1496
Stories Like This
