Breakthrough in future diabetes control?
Doctors have now successfully identified a new gene that could prove crucial in the fight against diabetes. An impairment in this particular gene can impair the production of insulin and thus lead to diabetes.
In their current investigation, scientists at the William Harvey Research Institute at Queen Mary University of London found that a newly identified gene could be crucial for the development of diabetes. The experts published the results of their study in the journal "PNAS".
MAFA gene affects the regulation of insulin
The newly discovered gene has a major impact on the regulation of insulin. Insulin is a key hormone in diabetes. The gene, called MAFA, could prove to be crucial in both high and low blood sugar conditions, the experts speculate. Diabetes is a group of diseases in which the blood sugar level is too high. According to the World Health Organization (WHO), by 2030 diabetes will be one of the diseases that cause the most deaths worldwide.
Mutation in a single gene can cause diabetes
It is estimated that approximately 30.3 million people live with diabetes in the United States alone. Type 2 diabetes is the most common form, followed by type 1 diabetes. But there are some rarer forms of the disease, which make up about one to four percent of cases in the United States, the authors explain. These forms of diabetes result from a mutation in a single gene that is shared by one or both parents.
Gene mutation can cause so-called insulinomas
The newly discovered gene mutation can cause both diabetes and so-called insulinomas. An insulinoma is a rare insulin-producing tumor of the pancreas. These tumors are typically triggered by low blood sugar. In contrast, diabetes leads to greatly increased blood sugar levels. The researchers were initially surprised by the association of two apparently conflicting conditions within the same families (diabetes and insulinomas), explains author Professor Marta Korbonits from the Queen Mary University of London.
Gene defects affect the insulin-producing beta cells of the pancreas
The results of the study showed that the same gene defect can also affect the insulin-producing pancreatic beta cells that lead to these two conflicting diseases, Korbonits adds. Another important discovery in the study was the link between diabetes and gender.
Men get diabetes more often than women, insulinomas
The investigation found that men were more susceptible to developing diabetes. In contrast, insulinomas occur more frequently in women. However, the reasons for this are not yet known, say the researchers. In their study, the doctors examined a family in which several individuals had diabetes, while other members of the family developed insulinomas in their pancreas.
Mutated protein is more stable and has a longer lifespan
The results could prove to be a pioneering intervention in the field of diabetes management, the researchers explain. This is the first time that a defect in the so-called MAFA gene has been linked to a disease. The resulting mutant protein was found to be abnormally stable, had a longer lifespan in the cell, and was therefore significantly more common in beta cells than in its normal version, the scientists explain. (as)