February 12, 2016

Finnish research: genetic mutations prevent diabetes complications

The results of the study help explain why some patients with type 1 diabetes are more likely to develop complications than others.
The results of the study help explain why some patients with type 1 diabetes are more likely to develop complications than others.
iStock.com/thelinke

A Finnish study has identified two genetic mutations that appear to lower the risk of contracting a diabetic retinal or kidney disease.

Known as retinopathy and nephropathy respectively, these are the most significant complications associated with diabetes. Both involve damaged capillaries and are primarily a result of high blood sugar, along with genetic factors.

Experiments indicate that the presence of vitamin B1 inside the cell can prevent such damage.

The study assessed the impact of point mutations on the genes that encode the proteins that transfer vitamin B1 into cells and consequently the susceptibility for additional complications associated with diabetes.

It was found that two of the studied point mutations in the SLC19A3 gene were strongly associated with both retinopathy and the combination of retinopathy and nephropathy. Therefore, carriers of the genetic variant were less likely to have such complications, with its protective effect remaining significant even when other common risk factors were taken into account.

The study was then repeated on North American patient data, confirming the results.

The research was conducted by Per-Henrik Groop, principal investigator of the FinnDiane research project at the University of Helsinki and Folkhälsan Research Centre, and his research group, along with professor Massimo Porta from the University of Turin.

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