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Feb 10, 2009

Investigators Identify Glutathione as a Marker for Mitochondrial Disorders

  • Glutathione levels can be used a biomarker to monitor the mitochondrial disorders, according to scientists at Stanford University School of Medicine and Lucile Packard Children’s Hospital. The researchers found that it was significantly reduced in white blood cells from the 20 mitochondrial disease patients in the study, indicating that the patients’ antioxidant defenses were depleted.

    Glutathione was also diminished in nine patients with organic acidemias, another group of metabolic diseases that researchers think may be associated with aberrant mitochondrial function.

    Defective mitochondria produce large quantities of oxygen free radicals. Comparing patients who have a mitochondrial disorder with healthy people, the team searched for signs that free radicals overtax patients’ natural antioxidant defense systems.

    “Even when these patients are coming into the clinic looking pretty healthy, they have evidence of extra metabolic stress,” Greg Enns, M.B., professor of pediatrics at Stanford University School of Medicine and director of the biochemical genetics program at Packard. “It is the first time such signs have been uniformly shown in the blood of patients across a wide range of mitochondrial disorders.”

    The research was published online February 9 in the Proceedings of the National Academy of Sciences.

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