gene

New gene found in rare form of diabetes could lead to new treatment for more common types

by Barbara Hewitt on January 18, 2018

Scientists studying families with rare blood sugar conditions have discovered a new gene thought to be critical in the regulation of insulin, which could pave the way for new treatments for diabetes.

In addition to the more common type 1 and type 2 diabetes, about 1% to 2% of cases diabetes is due to a genetic disorder, known as maturity onset diabetes of the young (MODY). A defective gene typically affects the function of insulin producing cells in the pancreas, known as beta cells.

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The research teams from Queen Mary University of London and the University of Exeter in the UK and Vanderbilt University in Nashville in the United States, studied a unique family.

In the family several individuals suffer from diabetes, while other family members had developed insulin-producing tumours in their pancreas. These tumours, known as insulinomas, typically cause 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 professor Márta Korbonits from Queen Mary’s William Harvey Research Institute.

‘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,’ she explained.

The team 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.

‘One exciting avenue to explore will be seeing if we can use this finding to uncover new ways to help regenerate beta cells and treat the more common forms of diabetes,’ Korbonits added.

The researchers identified a genetic disorder in a gene called MAFA, which controls the production of insulin in beta cells. Unexpectedly, this gene defect was present in both the family members with diabetes and those with insulinomas, and was also identified in a second, unrelated family with the same unusual dual picture.

This is the first time a defect in this 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.

‘We believe this gene defect is critical in the development of the disease and we are now performing further studies to determine how this defect can, on the one hand, impair the production of insulin to cause diabetes, and on the other, cause insulinomas,’ said first author Dr Donato Iacovazzo from Queen Marys.

The research has provided important insights into the impact a change in this particular gene has on insulin producing beta cells and how this relates to the development of a rare genetic form of diabetes, according to Faye Riley research communications officer at charity Diabetes UK which part funded the work. ‘It’s also a great example of how studying rarer conditions could help us learn more about more common types of diabetes,’ she added.

Professor Sian Ellard, of the University of Exeter Medical School, who oversaw the study, said it is hoped that that in the longer term this research will lead to exploring new ways to trigger the regeneration of beta cells to treat more common forms of diabetes.

‘While the disease we have characterised is very rare, studying rare conditions helps us understand more about the physiology and the mechanisms underlying more common diseases,’ he added.

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