Dr Anna Gloyn, who is lead author on the paper and carried out her studies whilst at the Peninsula Medical School but is now at Oxford's Centre for Diabetes, Endocrinology and Metabolism, said: 'We have shown that over one third of patients diagnosed with diabetes before the age of six months will have diabetes because of a defect in Kir6.2 gene. It is a very exciting finding that the cause of diabetes in these children has resulted in the real possibility of stopping insulin injections.'
The Exeter team, led by Professor Andrew Hattersley, working in concert with clinicians and patients from around the world, identified the mutations in Kir6.2. The Oxford team, led by Professor Frances Ashcroft FRS, then determined how they impair the protein function and lead to diabetes.
The paper, 'Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes', can be read in full at the New England Journal of Medicinewebsite. content.nejm/cgi/content/short/350/18/1838