Featured Research

from universities, journals, and other organizations

Israeli Scientists Discover Gene Responsible For Hereditary Muscle Disease Prevalent Among Jews Of Persian Descent

Date:
August 27, 2001
Source:
Weizmann Institute
Summary:
Researchers from the Weizmann Institute of Science and from Hadassah University Hospital have identified the gene that in its mutated form causes a degenerative muscle disease known as hereditary inclusion body myopathy, or HIBM. This disease is common in Jews from Iran and from neighboring Middle Eastern countries, but it also occurs in non-Jews in different parts of the world.

Rehovot, Israel -- Researchers from the Weizmann Institute of Science and from Hadassah University Hospital have identified the gene that in its mutated form causes a degenerative muscle disease known as hereditary inclusion body myopathy, or HIBM. This disease is common in Jews from Iran and from neighboring Middle Eastern countries, but it also occurs in non-Jews in different parts of the world. The findings are reported in the September issue of Nature Genetics.

Related Articles


The most common form of HIBM was first described in 1984 by Prof. Zohar Argov from the Department of Neurology of the Hebrew University-Hadassah Medical School in Jerusalem. The disease usually develops in adulthood and is characterized by progressive muscle weakness that starts in the legs but later affects the arms and leads to general disability.

Scientists began to unravel the molecular origins of the disease in 1996, when they mapped out the potential location of the gene responsible for HIBM: the short arm of chromosome 9. This discovery was made by Prof. Stella Mitrani-Rosenbaum of the Unit for Molecular Biology of Hadassah University Hospital, Mount Scopus, Jerusalem; Prof. Mitrani was later joined by graduate students Iris Eisenberg and Hagit Hochner.

However, it took five more years of intensive research to solve the HIBM puzzle. Scientists from the Crown Human Genome Center and from the Molecular Genetics Department of the Weizmann Institute of Science in Rehovot played a central role in this effort.

The Weizmann team, which included Profs. Doron Lancet and Jacques S. Beckmann, and Drs. Edna Ben Asher, Nili Avidan, Tsviya Olender and Miriam Chen, made sophisticated use of the databases created within the framework of the international Human Genome Project. Thanks to this research, scientists from the two Israeli institutions managed to identify the genetic mutations that cause HIBM. These mutations have been identified not only in people from the Middle Eastern region but also in patients from eastern India, the Bahama Islands and Georgia, United States.

The mutations affect an enzyme that plays a crucial role in the synthesis of sialic acid, a vital carbohydrate ingredient in the formation and functioning of numerous proteins. The scientists hypothesize that lack of sialic acid leads to accumulation of defective proteins in muscle cells, thus causing muscle degeneration. This discovery will facilitate the understanding of degenerative diseases of the muscle and may eventually lead to advanced methods for treating HIBM.

Based on the findings, the researchers have already developed a genetic test for prenatal diagnosis of HIBM in high-risk populations. Such genetic screening is particularly important for Jews of Persian descent, among whom one out of 10 to 20 people is believed to carry the mutated HIBM gene.

In addition to the researchers mentioned above, the scientific team that conducted the study included Drs. Tamara Potikha, Mark Barash, Moshe Shemesh, Gil Grabov-Nardini, Inna Shmilevich and Adam Friedmann of the Unit for Molecular Biology, Hadassah University Hospital, Mount Scopus, Jerusalem; Dr. Menachem Sadeh of the Wolfson Hospital, Holon, Israel; Dr. George Karpati of Montreal Neurological Institute, Montreal, Canada; and Drs. Walter G. Bradley and Lisa Baumbach of the University of Miami School of Medicine, Miami, Florida.

The researchers acknowledge the support of the affected families in Israel and abroad, who provided blood samples and generous financial backing for the study. This support was a key factor in the discovery of HIBM’s genetic basis. The research was conducted under the umbrella of the Israel National Laboratory for Genome Infrastructure at the Weizmann Institute, supported by the Ministry of Science, Culture and Sport.

Prof. Doron Lancet holds the Ralph and Lois Silver Professorial Chair in Human Genomics. His research is supported by the Wolfson Family Charitable Trust, UK, Henri and Francoise Glasberg, France, The Krupp Foundation, Germany, The Kalman and Ida Wolens Foundation, Corsicanna, TX, La Fondation Raphael et Regina Levy, France, The Ernst Nathan Fund for Biomedical Research, USA, The Jean-Jacques Brunschwig Memorial Fund, The Ebner Family Biomedical Research Foundation, and the Crown Human Genome Center. His research is also funded by Mr. Abraham Goldwasser, Israel, Ms. Emilia Mosseri, Israel and Yad Hanadiv, Israel.

The Weizmann Institute of Science, in Rehovot, Israel, is one of the world’s foremost centers of scientific research and graduate study. Its 2,500 scientists, students, technicians and engineers pursue basic research in the quest for knowledge and to enhance the quality of human life. New ways of fighting disease and hunger, protecting the environment and harnessing alternative sources of energy are high priorities at Weizmann.


Story Source:

The above story is based on materials provided by Weizmann Institute. Note: Materials may be edited for content and length.


Cite This Page:

Weizmann Institute. "Israeli Scientists Discover Gene Responsible For Hereditary Muscle Disease Prevalent Among Jews Of Persian Descent." ScienceDaily. ScienceDaily, 27 August 2001. <www.sciencedaily.com/releases/2001/08/010827193348.htm>.
Weizmann Institute. (2001, August 27). Israeli Scientists Discover Gene Responsible For Hereditary Muscle Disease Prevalent Among Jews Of Persian Descent. ScienceDaily. Retrieved October 25, 2014 from www.sciencedaily.com/releases/2001/08/010827193348.htm
Weizmann Institute. "Israeli Scientists Discover Gene Responsible For Hereditary Muscle Disease Prevalent Among Jews Of Persian Descent." ScienceDaily. www.sciencedaily.com/releases/2001/08/010827193348.htm (accessed October 25, 2014).

Share This



More Health & Medicine News

Saturday, October 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

IKEA Desk Converts From Standing to Sitting With One Button

IKEA Desk Converts From Standing to Sitting With One Button

Buzz60 (Oct. 24, 2014) IKEA is out with a new convertible desk that can convert from a sitting desk to a standing one with just the push of a button. Jen Markham explains. Video provided by Buzz60
Powered by NewsLook.com
Ebola Protective Suits Being Made in China

Ebola Protective Suits Being Made in China

AFP (Oct. 24, 2014) A factory in China is busy making Ebola protective suits for healthcare workers and others fighting the spread of the virus. Duration: 00:38 Video provided by AFP
Powered by NewsLook.com
WHO: Millions of Ebola Vaccine Doses by 2015

WHO: Millions of Ebola Vaccine Doses by 2015

AP (Oct. 24, 2014) The World Health Organization said on Friday that millions of doses of two experimental Ebola vaccines could be ready for use in 2015 and five more experimental vaccines would start being tested in March. (Oct. 24) Video provided by AP
Powered by NewsLook.com
Doctor in NYC Quarantined With Ebola

Doctor in NYC Quarantined With Ebola

AP (Oct. 24, 2014) An emergency room doctor who recently returned to the city after treating Ebola patients in West Africa has tested positive for the virus. He's quarantined in a hospital. (Oct. 24) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins