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Researchers have identified a new gene that is thought to be critical in the regulation of insulin – the key hormone in diabetes – from a family with both high and low blood sugar conditions.
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, the study showed.
Insulinomas tumours are typically caused 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.
The study, published in the journal PNAS, also observed 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.
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.
For the study, the team examined the unique case of a family where several individuals suffered from diabetes, while other members developed insulinomas in their pancreas. n
Researchers have identified a new gene that is thought to be critical in the regulation of insulin – the key hormone in diabetes – from a family with both high and low blood sugar conditions.
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, the study showed.
Insulinomas tumours are typically caused 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.
The study, published in the journal PNAS, also observed 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.
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.
For the study, the team examined the unique case of a family where several individuals suffered from diabetes, while other members developed insulinomas in their pancreas. n
