A genetic mutation is behind severe hypoglycemia

The sudden drop in blood sugar levels, known as hypoglycemia, is a serious health issue that affects many people’s lives. Various factors, including genetic ones, can underlie this condition. Regulating blood sugar levels is vital for the healthy functioning of the body, as glucose is one of the main energy sources. When blood sugar levels drop too low, it can cause many uncomfortable and life-threatening symptoms.

Hypoglycemia is common among diabetics, especially those who manage their condition with insulin. However, hypoglycemia can also be caused by certain genetic disorders that affect the functioning of hormones and genes responsible for blood sugar regulation. Recent research indicates that mutations in the AKT2 gene play a significant role in the development of severe hypoglycemia.

To understand hypoglycemia, it is important to be aware of the underlying genetic and physiological processes, as well as the appropriate treatment options.

What is hypoglycemia and how does it develop?

Hypoglycemia refers to abnormally low levels of blood sugar, which can be accompanied by various symptoms such as dizziness, sweating, trembling, and even loss of consciousness. This condition can be particularly dangerous if not treated promptly. The most common causes of hypoglycemia include excessive insulin intake, missed meals, or alcohol consumption, which can lead to a sudden drop in blood sugar levels.

However, the latest research highlights that hypoglycemia can occur not only in diabetics but also due to genetic disorders. Mutations in the AKT2 gene affect the functioning of the pancreas, preventing proper regulation of blood sugar levels. When insulin cannot perform its function, blood sugar levels continuously drop, leading to hypoglycemia.

This genetic disorder is rare, but it is important to understand that not only diabetics but anyone born with this mutation may face the risk of severe hypoglycemia. Researchers have found that in the absence of the appropriate gene variant, the body reacts as if insulin is constantly present, which increases glucose utilization and lowers blood sugar levels.

Research and potential treatments

Researchers at the University of Cambridge analyzed the genetic codes of three children suffering from severe hypoglycemia. The results showed that in all three cases, mutations in the AKT2 gene were involved. Treating such a condition often requires feeding the affected children at night, as sudden drops in blood sugar can have life-threatening consequences. For this reason, in many cases, a tube is implanted in the children’s stomachs to ensure continuous nutrient intake.

Stephen O’Rahilly, the lead researcher, emphasized that there are medications targeting the AKT1 and AKT2 genes. These medications are available in oral form and may offer an effective treatment option for hypoglycemic conditions within a year. With advancements in science, more options will become available in the future for those living with similar genetic disorders.

First aid for hypoglycemia

If someone nearby suddenly feels unwell, it is important to know what we can do in this situation. Hypoglycemia can appear suddenly and requires immediate intervention. The first step is to remain calm, as we can only help effectively with a clear head.

Symptoms of hypoglycemia may include dizziness, trembling, confusion, and even loss of consciousness. If we notice these signs, the first step is to ask the affected person if they are insulin-dependent. If so, they likely need glucose. The best solution is to give the affected person a sugary drink or candy to quickly restore their blood sugar levels.

If the individual cannot swallow, for example, if they are unconscious, emergency help should be called, and their breathing should be monitored continuously until professionals arrive. Timely intervention can save lives, so it is important to be aware of the signs of hypoglycemia and the appropriate first aid steps.