MAFA Gene discovery could lead to new insight into diabetes treatment

Diabetes is a common phenomenon that affects more than 30 million individuals in the United States alone. Of the two types, Type 2 diabetes is more common than Type 1. Plus, there are also some lesser known forms of this condition called monogenic diabetes which occur when a gene mutation gets handed down from a single parent or both.

Any research that points to possible treatments or cure of such conditions is always of interest not only to the medical community but also the general population at large. This is because a huge number of people are indeed affected by diabetes worldwide.

A new study out of UK has indicated that uncommon blood sugar disorders may be linked to a specific gene mutation. The two conditions studied were monogenic diabetes, a rare form of diabetes caused by a single gene abnormality, and insulinomas or small pancreatic tumors that produce excessive insulin.

Interestingly enough, the two conditions are opposing in nature as diabetes is known to exhibit high blood glucose levels whereas insulinomas bring about a drop in blood glucose levels. So what connects the two opposing conditions- apparently a MAFA mutation.

The gene known as MAFA, is responsible for insulin production in beta cells in the pancreas. In its mutated form, there was an increased production of an abnormal MAFA protein within beta cells. This abnormal protein was seen to be unusually stable with an extended cellular life and more abundant than its regular version.

The study showed that a mutation in this gene caused both conditions that led to high and low blood sugar levels in individuals.

Dr. Donato Iacovazzo, first author of the paper stated that the research team believed that this particular gene defect was critical in triggering the disease and was being studied on how it could affect blood glucose levels in two opposing directions.

The subjects of this study were members of the same family some of whom were diabetic whereas others had insulinomas. The research team that observed these individuals was able to verify the occurrence of the mutation in various family members.

To further confirm the association of the MAFA gene with abnormal blood sugar levels, similar finding were also confirmed in members of a second, unrelated family but with the same dual conditions.

Results also concluded that among the subjects, male members were more inclined to getting diabetes while females exhibited more cases of insulinomas.

The overall results of the study suggest that mutation of the MAFA gene might be the common denominator behind both elevated and reduced blood glucose levels. However, how this mutation brings about these conditions still remains unclear.

Further research is now underway to discover how the same genetic defect could cause two such opposing conditions.

How does this tie in to diabetes treatment?

Studying rare conditions with their possible triggers or causes can help discover a treatment mode for these conditions. One of the research leaders, Professor Sian Ellard observed that the disease they had characterised was very rare, but studying such rare conditions helped them understand more about the origin and components of common diseases. He further stressed that the team hoped that this research would lead them to finding new ways to regenerate beta cells and enable them to treat the more common types of diabetes.

The research conducted in collaboration with Queen Mary University of London, University of Exeter and Vanderbilt University could potentially lead to finding new treatment options for diabetes including its rare as well as common forms.

Sources: Drug Target Review and Medical News Today

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