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May 6, 2008

Investigators Identify Mutation Linked to Complications in Diabetics

  • Researchers identified a genetic alteration that may explain why some patients are more prone than others to life-threatening complications from diabetes.

    The specific SNP occurred near the erythropoietin (EPO) gene, which encodes for a protein that stimulates blood vessel growth and red blood cell production.

    The investigators examined more than 600 diabetic patients for SNPs and found a genetic change associated with diabetic patients with an increased frequency of severe eye and kidney problems, both of which are caused by excessive growth of blood vessels.

    In mouse models mimicking diabetic kidney failure and blindness, the researchers found that EPO levels were significantly higher than in control mice.

    The team’s follow-up studies of nearly 1,500 patients confirmed a strong correlation between diabetics with the SNP and an elevated risk for severe eye and kidney complications.

    The investigation included researchers from Eccles Institute of Human Genetics, University of Utah School of Medicine, Sichuan Academy of Medical Sciences, Harvard Medical School, Keck School of Medicine of the University of Southern California, California Retina Consultants, Salt Lake City Veterans Affairs Medical Center, and Island Medical Center. 
    The study was published on May 5 in the Proceedings of the National Academy of Science.


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