Study: Severe diabetes complications traced to single genetic variant

A newly discovered genetic alteration may explain why some patients are more prone than others to life-threatening complications from diabetes, according to a study published Monday by the U.S. Proceedings of the National Academy of Sciences (PNAS).

A research team from University of Utah examined over 600 diabetic patients for single letter changes, or SNPs, in their DNA, and found a genetic change associated with diabetic patients with an increased frequency of severe eye and kidney problems.

These two complications of diabetes are caused by excessive growth of blood vessels. The specific SNP occurred near the erythropoietin gene, also known as EPO, which encodes a protein that stimulates blood vessel growth and red blood cell production.

In mouse models mimicking diabetic kidney failure and blindness, the researchers found that EPO levels were significantly higher than in-control mice, suggesting that increased EPO production results in excessive blood vessel growth, which in humans can lead to kidney failure and blindness.

Their 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, despite their best efforts to control their diet and blood sugar.

The research fingers SNPs as "a canary, culprit and clue" to aid diagnosis and treatment of these diabetic complications, according to the authors.