Israeli scientists discover gene responsible for hereditary muscle disease prevalent among Jews of Persian descent

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.

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 Middl

Contact: Jeffrey Sussman
American Committee for the Weizmann Institute of Science

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