mutations

Researchers have discovered genetic mutations that reduce the risk of two common diabetic complications: retinopathy, or eye disease, and nephropathy, or kidney disease.

The study, which was conducted at the University of Helsinki and Folkhälsan, found that cells with higher levels of vitamin B1 were not as damaged by high blood glucose levels as those with lower levels of vitamin B1. Two diabetic complications, retinopathy and nephropathy, were particularly affected.

The researchers hypothesised that certain genetic mutations, which are responsible for transferring vitamin B1 into cells, could affect the risk of these complications.

To test their theory, they analysed data from the world’s largest database of people with type 1 diabetes. They found that people with a certain mutation of the SLC19A3 gene were less likely to develop retinopathy or nephropathy. Then they tested different sets of data, and reached similar conclusions.

“Based on these results, it seems that the SLC19A3 gene has a role in the development of diabetic nephropathy and diabetic retinopathy,” said Iiro Toppila, one of the study’s researchers. “The results also help explain why some patients with type 1 diabetes are more likely to develop complications than others. However, further research is needed into the biological effects of point mutations.”

The researchers hope to be able to use the findings to improve treatments for common diabetic complications.

The findings are published in the journal Diabetes.