Severe Hypoglycaemia Is Genetic, Researchers Say
The severe form of hypoglycaemia is caused by AKT2 genes, according to the latest research conducted by scientists at the University of Cambridge.
Having severe hypoglycaemia is life-threatening because the body does not have enough energy to complete the physiological, biological and chemical processes.
In the study "An Activating Mutation of AKT2 and Human Hypoglycemia" published on the Journal Science, researchers maintained there are already anti-cancer drugs available that can target the AKT2.
Hypolycaemia
Hypoglycaemia is a condition characterized by a blood glucose level lower than the normal. The body utilizes glucose- which comes primarily from foods- for energy fuel. In diets, carbohydrates are the principal source of glucose. These include potatoes, rice, bread, cereal, and tortillas, to name a few.
When blood glucose starts dropping, glucagon, a hormone produced by the pancreas, will signal the liver to break down the glycogen-the storage form of glucose-and release it to the bloodstream. Consequently, the blood glucose will rise to the normal level. In patients who rely on insulin injection or pills, the blood glucose will not easily rise to the normal level.
Hypoglycaemia can be caused by a suspension in the balance between sugar and insulin, which is another hormone. As such, the insulin will lower the sugar level in the blood. Also, the hypoglycaemia is a common condition afflicting individuals with type 1 diabetes. This happens if the patients miss an injection of insulin, a meal or when they drink an alcoholic beverage.
The Irony
While researchers found out the severe form of hypoglycaemia is genetic, another studies have shown there are one in every 100,000 babies born with genetic effects, which make them vulnerable to developing hypoglycaemia even when their blood does not contain insulin. Scientists say that in theory, those babies should have extremely high levels of blood sugars.
"Fear of low blood sugar has dominated the lives of these patients and their families, and for many years, the lack of an obvious cause has added to their anxiety," said Robert Semple, a member of the research team at the University of Cambridge.
In their research, scientists analyzed the genetic code of three children afflicted by hypoglycaemia, and they found one thing in common - they all have mutation in the AKT2 gene.
Researchers explained the AKT2 gene acts as the interpreter for insulin. However, with mutation, AKT2 interprets as though the insulin is a constant, thereby, lowering the blood sugar levels.
Researchers say there are already cancer drugs targeting the AKt1, which can also work against the AKT2. They assured the public that treatments will be made available in a year.
"I went down to Great Ormond Street to see one of these patients, then a young child, about 10 years ago. It is enormously satisfying that we have finally understood the cause of his problem and very exciting that a potential therapy immediately suggests itself for this young man and others with this, probably under-recognized, condition," said Professor Stephen O'Rahilly, the head of the research team.