Scientists have found a new gene which may prove to be critical in regulation of insulin, the key hormone in diabetes – from a family with both high and low blood sugar conditions.Diabetes is a group of diseases that result in too much sugar in the blood (high blood glucose). According to WHO, by the year 2030, Diabetes would become one of the leading killers globally.
According to the study published in the journal PNAS, besides Type 1 or Type 2 diabetes, nearly 1-2 per cent of cases of the blood sugar condition is due to impairment in a gene called MAFA, that can impair production of insulin and also cause insulinomas – insulin-producing tumours in pancreas.
These tumours are typically triggered by low blood sugar levels, in contrast to diabetes which leads to high blood sugar levels.
“We were initially surprised about the association of two apparently contrasting conditions within the same families – diabetes which is associated with high blood sugar and insulinomas associated with low blood sugar,” said lead author Marta Korbonits, Professor at the Queen Mary University of London (QMUL).
“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 added.
Another significant revelation made by the study was the link between diabetes and gender. The findings revealed that males were more prone to developing diabetes, while insulinomas were more commonly found in females, but the reasons behind this difference are as yet unknown.
For the study the team studied a family, with a unique case where several individuals suffered from diabetes, while other members developed insulinomas in their pancreas.
The findings could prove to be a path breaking intervention in the field of diabetes management. This is the first time a defect in MAFA gene has been linked with a disease. The resultant mutant protein was found to be abnormally stable, having a longer life in the cell, and therefore significantly more abundant in the beta cells than its normal version.