Genetic mutations prevent retinopathy and nephropathy, study finds

Kurt Wood
Thu, 11 Feb 2016
Genetic mutations prevent retinopathy and nephropathy, study finds
A newly discovered genetic mutation reduces the risk of two major diabetic complications, according to new research.

The study, conducted at the University of Helsinki and Folkhälsan Research Centre, found that the presence of vitamin B1 within cells reduced the damage caused by high blood sugar levels. In particular, this affected the risk of diabetic retinopathy and nephropathy, or eye disease and kidney disease respectively.

The researchers hypothesised that mutations of the genes that are responsible for transferring vitamin B1 into cells could affect one's risk of diabetic complications.

To test their theory, they used the world's largest database of people with type 1 diabetes and their complications. They discovered that mutations in the SLC19A3 gene were significantly linked to both retinopathy and nephropathy. People with a particular mutation, therefore, are less likely to develop these complications. When the study was repeated on different data sets, the findings remained consistent.

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

The study's results have the potential to lead to better treatments for diabetic complications.

The findings are published in the journal Diabetes.
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