Researchers at the University of Cambridge have found a genetic cause for a rare form of severe hypoglycemia. Diabetics who inject too much insulin commonly experience hypoglycemia, or low blood sugar, but it is also caused by some medications or too much alcohol. While hypoglycemia is usually mild and can be treated quickly by eating or drinking a small amount of sugar, severe hypoglycemia can cause seizures, coma and even death.
About one in 100,000 people are afflicted with a form of hypoglycemia which exists when blood sugar levels should be high. The night is a particularly fearful time for the patients because there is no food intake, so blood sugar levels can drop to dangerous levels. Currently, the only treatment is to insert a feeding tube directly into the patient's stomach, allowing feeding during the night.
Genetic analysis of three children with the condition found a mutation in the AKT2 gene of all these children. AKT2 normally helps regulate blood sugar by transmitting insulin signals to body tissues. Insulin causes the liver and muscles to store sugar from the blood, lowering the amount of sugar in the blood. The mutation found in the patients causes the AKT2 to act as if insulin is always present in the body, unnecessarily lowering blood sugar levels. Some current cancer drugs which target AKT1 also target AKT2, so patients may not have to wait too long for a pharmaceutical intervention and a better quality of life.
-compiled by Amanda Gellett
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