Scientists from the University of Helsinki found that a mutation in the RFX6 gene significantly impairs insulin secretion, thereby increasing the risk of developing type 2 diabetes and gestational diabetes in carriers. Research results published In the journal Diabetology.
RFX6 is critical for the development of pancreatic beta cells, which are responsible for insulin production. Insulin, in turn, regulates carbohydrate metabolism, maintains blood sugar at the required level and is also involved in fat (lipid) metabolism. The research team used genetically modified beta stem cell models to examine for the first time how a mutation in RFX6 affects their development and function.
The results showed that although the mutation itself does not change the number of beta cells, it impairs insulin secretion and thus interferes with the normal metabolism of dietary glucose. This pathology increases the likelihood of developing diabetes, which occurs due to defects in insulin production.
According to scientists, carriers of a mutation in the RFX6 gene have an approximately two-fold increased risk of developing type 2 diabetes and gestational diabetes (a carbohydrate metabolism disorder that develops during pregnancy). But this “undesirable” genetic variant RFX6 is more common in Finland than in other countries of the world. Its carriage is registered in one in 250 Finns.
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