New test for mitochondrial disease

Feb 11, 2009 10:15 AM in Biology |
New test for mitochondrial disease
By Coco Ballantyne in 60-Sediseasecond Science Blog
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Researchers may have discovered a new way to monitor mitochondrial diseases, a spectrum of disorders caused by genetic errors in mitochondria, the fuel-burning factories within cells that produce energy necessary for life. A new study reveals that people with these diseases may be deficient in glutathione, a toxin-fighting molecule made by the body that helps repair damage wrought by wayward mitochondria.

"We found very clearly that the glutathione levels were low in our mitochondrial disease patients," says Gregory Enns, a pediatrician and geneticist at Stanford University in Palo Alto, Calif. and coauthor of the study published this week in the online edition of the Proceedings of the National Academy of Sciences. By measuring blood levels of glutathione, researchers may be able to assess the severity of a patient's disease and gauge how well therapies are working, Enns notes.