With the cooperation of a Bedouin tribe from northern Israel , researchers at the Weizmann Institute of Science and the Sheba Medical Center have identified a gene causing polymorphic ventricular tachycardia (PVT), a fatal heart condition primarily affecting young children. A mutation to the identified gene was discovered to be the cause of the disease. The Weizmann Institute press release quotes Dr. Nili Avidan of the Department of Molecular Genetics as saying, ?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.?
The scientists were alerted to the possibility of identifying the mutation when PVT symptoms showed up repeatedly in a northern Bedouin tribe, believed to be the descendants of three sibling forebears who settled in the region 200 years ago. Doctors also discovered that nine children from the same tribe had previously died from the cardiac disease and that several other families in the village had a similar medical history. The multiple cases, reputed common family lineage and the Bedouin custom of marrying within the extended family clan alerted researchers to possible genetic markers for the PVT disease. When scientists tested the tribe members, they discovered that, in just seven families, thirteen children were identified as having PVT and were given appropriate medication. The hypothesis that one of the clan progenitor brothers carried the genetic mutation that causes PVT turned out to be correct.
The scientists were alerted to the possibility of identifying the mutation when PVT symptoms showed up repeatedly in a northern Bedouin tribe, believed to be the descendants of three sibling forebears who settled in the region 200 years ago. Doctors also discovered that nine children from the same tribe had previously died from the cardiac disease and that several other families in the village had a similar medical history. The multiple cases, reputed common family lineage and the Bedouin custom of marrying within the extended family clan alerted researchers to possible genetic markers for the PVT disease. When scientists tested the tribe members, they discovered that, in just seven families, thirteen children were identified as having PVT and were given appropriate medication. The hypothesis that one of the clan progenitor brothers carried the genetic mutation that causes PVT turned out to be correct.