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Therapy Developed That May Inhibit Kidney Disorder by Differentiating Disease Processes and Biomarkers

By BiotechDaily International staff writers
Posted on 06 Aug 2013
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Image: A kit used to collect exhaled breath for metabolic analysis in a study of methylmalonic academia (MMA) (Photo courtesy of Maggie Bartlett, NHGRI; NIH Clinical Center, Bethesda, MD, USA).
Image: A kit used to collect exhaled breath for metabolic analysis in a study of methylmalonic academia (MMA) (Photo courtesy of Maggie Bartlett, NHGRI; NIH Clinical Center, Bethesda, MD, USA).
A group of investigators has overcome a major biologic obstacle in an effort to find enhanced treatments for patients with a rare disease called methylmalonic acidemia (MMA). The scientists, utilizing genetically engineered mice, identified a series of biomarkers of kidney damage—a key characteristic of the disorder—and demonstrated that antioxidant therapy protected kidney function in the mice.

Researchers from the US National Human Genome Research Institute (NHGRI; Bethesda, MD, USA), part of the National Institutes of Health (NIH), substantiated the same biomarkers in 46 patients with MMA seen at the NIH Clinical Center. The biomarkers offer new tools for monitoring disease progression and the effects of therapies, both of which will be helpful in the researchers' design of clinical trials for this disease.

The discovery, reported in the July 29, 2013, advance online issue of the journal Proceedings of the National Academy of Sciences of the United States of America (PNAS), creates the possibility for use of antioxidant therapy in a clinical trial for patients with MMA. It also demonstrates the processes by which mitochondrial dysfunction affects kidney disease. Mitochondrial dysfunction is a problem not only in rare disorders, such as MMA, but also in a broad range of common disorders, such as diabetes, obesity, and cancer.

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National Human Genome Research Institute



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