Protein Study May Provide Disease Insights
Posted on: Thursday, 10 August 2006, 18:00 CDT
U.S. chemists studying a protein associated with a rare genetic disease say they might also be gaining insights into cancer and heart disease.
Carla Koehler, a UCLA associate professor of chemistry and biochemistry, and Steven Claypool, a UCLA post-doctoral scholar, referred specifically to the tafazzin protein, which plays a key role in Barth syndrome -- a rare condition that afflicts boys and damages the heart, immune system and mitochondria.
If not diagnosed, boys with the disease have only a 30 percent chance of survival to age 4; the cause of death often being cardiac failure.
Mutations in the tafazzin gene lead to Barth syndrome, which appears to be a disease of the mitochondria -- the part of cells that burn food and produce most of the cells' energy. Each human cell contains several hundred mitochondria. Mitochondria control cell growth, tell cells when to live and die, and are, Koehler said, the forgotten part of the cell.
The scientists report the research in the Journal of Cell Biology.
Source: United Press International
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