Link between gene, diabetes complications found
The University of Utah researchers compared patients who had been diabetic for years without developing retinopathy or nephropathy to those with the most severe forms of the complications. They found that a common EPO gene mutation that about half the population has increases the chance of the complications twofold for those with diabetes, said Dr. Kang Zhang, lead investigator and director of the Division of Ophthalmic Genetics at Moran and an associate professor of ophthalmology and vision sciences.
The research is online in the journal Proceedings of the National Academy of Science.
Researchers know the tendency to develop the complications runs in families, although the gene(s) that cause it are not known. But the mutant EPO gene increases the risk, Zhang said. "This is a huge disease, and this is the first clear gene to be identified for both kidney and eye disease."
The kidneys and eyes both produce EPO locally. The kidneys also create a systemic level of EPO, which goes to bone marrow. So when kidneys fail, the systemic amount decreases. But even if someone has anemia, there's "still local high production" in the eyes and kidneys, and that's what creates the complications.
Diabetes is the primary cause of end-stage kidney disease, and that raises another EPO-related issue. EPO is widely used to combat anemia for patients on dialysis because it boosts red blood cell production. The finding means EPO levels must be carefully monitored in dialysis patients, Zhang said, to avoid creating the complications.
Zhang believes it may be possible to make medications to slow progression of kidney disease and retinopathy in those with diabetes. The researchers hope to separate the antigenic effect of the EPO to prevent the complications and still leave its ability to boost red blood cell production.
Besides Zhang's team at Moran, others involved in the findings are from Human Molecular Biology and Genetics, Department of Human Genetics at the U.; the Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, China; Beetham Eye Institute, Joslin Diabetes Center, Brigham and Women's Hospital and Harvard Medical School, Doheny Eye Institute, Keck School of Medicine of the University of Southern California, California Retina Consultants and Research Foundation; Salt Lake City VA Medical Center, Island Medical Center and Jan F. Luis Hospital, Saint Croix.
Federal research grants and private foundation funding paid for the research.
E-mail: lois@desnews.com
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