Genetic causes of neonatal diabetes uncovered

Two new genetic causes of neonatal diabetes have been uncovered by researchers. Scientists from the University of Exeter Medical School have discovered new genetic reasons behind the development of diabetes in newborn babies. The discovery could help to better understand how the pancreas forms beta cells that produce insulin.

Published in the journal 'Cell Metabolism', the new research explains that mutations within two different genes can result in diabetes. The genes are an important factor when it comes to the development of the pancreas and therefore the mutations can affect the production of insulin-producing beta cells. The findings mean that there are now 20 known genetic causes for diabetes, which could help in the development of new and effective treatments for the disease.

Dr Sarah Flanagan, lead author on the paper, said: "We are very proud to be able to give answers to the families involved on why their child has diabetes. Neonatal diabetes is diagnosed when a child is less than six months old, and some of these patients have added complications such as muscle weakness and learning difficulties with or without epilepsy.

"Our genetic discovery is critical to the advancement of knowledge on how insulin-producing beta cells are formed in the pancreas, which has implications for research into manipulating stem cells, which could one day lead to a cure."

Funded by the Wellcome Trust, the National Institute for Health Research, Diabetes UK and the European Community's Seventh Framework Programme, the research found that neonatal diabetes develops as a result of the gene that affects the production of insulin. A mutation in this gene changes how much insulin is being produced, which results in higher levels of glucose in the body. 

Not only do the findings of the study provide answers to the parents of children that develop this rare condition, they also further research into replacing insulin-producing beta cells within the pancreas, according to Dr Alasdair Rankin, Diabetes UK director of research. Ultimately this could help towards a treatment that successfully replaces these cells.