Breakthrough in hypoglycaemia research
A team of scientists from the United Kingdom and France has identified the cause of a rare, life-threatening form of hypoglycaemia. Writing in the journal Science, the scientists explain how their findings could lead to the development of new pharmaceutical treatments for the condition. A fairly common disorder, hypoglycaemia is normally characterised by too much insulin which results in too little sugar in the bloodstream; it commonly affects diabetic patients or individuals with disorders that cause insulin overproduction. Its symptoms can include seizures and unconsciousness. But in an estimated 1 in 100,000 births, a much more severe, life-threatening form of hypoglycaemia occurs, compounded by the fact that this version of the condition cannot be detected via the presence of insulin in the bloodstream. Treatment for sufferers of this rare condition is carried out with the implantation of a surgical feeding tube through the front of the stomach to allow feeding during sleep. This prevents patients' blood glucose levels from dropping dangerously low overnight when monitoring is difficult and when symptoms often pass unnoticed. British and French researchers have now identified the rare genetic alteration responsible for this dangerous form of hypoglycaemia. By analysing the genetic codes of three children who suffer from the condition, as well the codes of their parents, the team identified a single change in the gene AKT2 as being responsible for the onset of the disorder. AKT2 plays a critical role in transmitting insulin's signal to the body's tissues. The change identified in AKT2 left this signal constantly partly switched on, even during fasting when its absence is essential for liver glucose production. Now families and patients can take some solace in at least understanding the cause of their suffering, as one of the study authors, Dr Robert Semple from the Institute of Metabolic Science at the University of Cambridge in the United Kingdom, explains: '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. Offering families an explanation for a rare disease is usually of great value to them in its own right, but in this case it is particularly exciting that our findings open the door for a new and specific treatment in the future.' And the finding could lead to new treatments quicker than usual, as the team also found that the AKT2 molecule is closely related to a molecule that is commonly activated in cancers (AKT1). Scientists think that drugs currently in development to directly block activation of AKT1 that also happen to block AKT2 could potentially be used to treat this rare form of hypoglycaemia. Another paper author from the Institute of Metabolic Science, Professor Stephen O'Rahilly, says: 'I went down to Great Ormond Street [hospital] 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-recognised, condition.'For more information, please visit:University of Cambridge:http://www.cam.ac.uk/
Countries
France, United Kingdom