Scientists have identified a new mutation that affects a gene responsible for insulin regulation. The findings were published in the journal, Proceedings of the National Academy of Sciences.
According to the paper, nearly 1-2 percent of cases of diabetes are caused by the impairment of a gene called MAFA, which would disable production of insulin. Besides causing Type 1 and Type 2 diabetes, a malfunctioning MAFA gene would lead to insulin-producing tumors in the pancreas aka insulinomas.
The tumors usually develop due to low blood sugar levels, as opposed to diabetes which results in high blood sugar levels.
Researchers were able to discover the mutation by sequencing a specific part of the genome belonging to two families. One of the families had high blood sugar levels while the other where on the opposite side of the spectrum.
Lead author of the study and a professor at the Queen Mary University of London, Marta Korbonits, expressed their disbelief when they found two contrasting conditions within the same families.
“Our research shows that, surprisingly, the same gene defect can impact the insulin-producing beta cells of the pancreas to lead to these two opposing medical conditions,” Korbonits said.
In addition, the research revealed a link between diabetes and gender. While males were more susceptible to diabetes, females had a higher risk of developing insulinomas. Researchers have yet to find the reason behind this.
Researchers claim that this is the first time a mutation in MAFA gene has been tied to a disease.
Diabetes is a chronic and metabolic disease characterized by high blood glucose (blood sugar). People who suffer from the condition can experience damage to the heart, blood vessels, kidneys, and nerves.
According to the World Health Organization, diabetes could become one of the leading killers globally by 2030.
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