Scientists from the University of Manchester have led a team that have produced a breakthrough in the understanding of congenital hyperinsulinism (CHI), a rare childhood disease linked to diabetes . CHI, which is described as the clinical opposite of diabetes mellitus, occurs when the pancreas produces too much insulin, as opposed to the too little in diabetes.
When the pancreas has healthy insulin-producing cells, a small set of proteins regulate the amount of insulin that is released. However, if the proteins do not function properly, the cells can either release too little insulin, which can result in diabetes mellitus, or too much insulin, which leads to congenital hyperinsulinism.
Karen Cosgrove, co-leader of the study, published in the journal Diabetes, commented “CHI causes dangerously low blood sugar levels which can lead to convulsions and brain damage if not treated promptly. It is a complex condition caused by gene defects that keep the insulin-producing cells switched on when they should be switched off.
She added “Our group was the first to show how these gene defects led to uncontrolled insulin release in patients a number of years ago. Now we have taken the cells from patients following surgery and proven that, in some cases, it is possible to correct defects in the rogue cells.”
The researchers hope that their work will mean new drug treatments for hyperinsulinism can be developed in the future.

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