New genetic causes of neonatal diabetes found

by Barbara Hewitt on January 13, 2014

New research has found two new genetic causes of neonatal diabetes, providing further insights on how insulin producing cells are formed in the pancreas.


The specific study focused on young people with neonatal diabetes, a rare condition which affects approximately one in 100,000 births

The ground breaking research at the University of Exeter Medical School in the UK has found that mutations in two specific genes which are important for development of the pancreas can cause the disease. It increases the number of known genetic causes of neonatal diabetes to 20.

‘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,’ said Dr Sarah Flanagan, lead author of the research paper published in the journal Cell Metabolism.

‘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,’ she added.

According to Dr Alasdair Rankin, director of research at leading charity Diabetes UK, said that as well as shedding further light on the genetic causes of neonatal diabetes and providing answers for parents of children with this rare condition, this work increases the understanding of how the pancreas develops.

‘Many people with diabetes can no longer make insulin and would benefit from therapies that replace the insulin producing beta cells of the pancreas. The results of this study are critical to bringing the day closer when this type of treatment is possible,’ he explained.

Neonatal diabetes is caused by a change in a gene which affects insulin production. This means that levels of blood glucose in the body rise dangerously high.

The Exeter team is the leading centre for neonatal diabetes having recruited over 1,200 patients from more than 80 countries. This specific study focused on 147 young people with neonatal diabetes, a rare condition which affects approximately one in 100,000 births.

Following a systematic screen, 110 patients received a genetic diagnosis. For the remaining 37 patients, mutations in genes important for human pancreatic development were screened. Mutations were found in 11 patients, four of which were in one of two genes not previously known to cause neonatal diabetes.

For many of the 121, some 82%, patients who received a genetic diagnosis, knowing the cause of the diabetes will result in improved treatment, and for all the patients it will provide important information on risk of neonatal diabetes in future pregnancies. These patients also provide important scientific insights into pancreatic development.

The opinions expressed in this article do not necessarily reflect the views of the Community and should not be interpreted as medical advice. Please see your doctor before making any changes to your diabetes management plan.

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