The mutation, which was found in a Bedouin tribe in Northern Israel, had previously caused the death of nine children in this tribe, in some cases from the same family. The new finding is expected to improve the screening for and treatment of this fatal disease, as well as opening a window to a better understanding of other heart conditions, says Dr. Nili Avidan of the Weizmann Institute's Department of Molecular Genetics. We believe that mutations in this and other biochemically related genes may lie behind a number of as yet largely unsolved heart disorders.
The team found that the disease is caused by a mutation in the gene known as Calsequestrin 2 (CASQ2), which plays a vital role in the contraction and relaxation of the heart. The mutation impairs the ability of the CASQ2 protein to attract and release calcium ions upon demand.
Published in the American Journal of Human Genetics, the study was performed by doctoral student Hadas Lahat, her advisors, Prof. Michael Eldar, Chief of the Heart Institute at the Sheba Medical Center and Dr. Elon Pras of the Danek Gartner Institute of Human Genetics, Sheba Medical Center, and Dr. Avidan, Dr. Tsviya Olender, Dr. Edna Ben-Asher, and Prof. Doron Lancet of the Weizmann Institutes Department of Molecular Genetics.
The study began when an eight-year-old girl in the tribe fainted following physical exertion, and was admitted to the Rambam Medical Center. Her two younger brothers suffered from the same symptoms, and two other siblings had previously died of the disease. While the hospital physicians believed that the childrens sy
Contact: Jeffrey Sussman
American Committee for the Weizmann Institute of Science