New genetic causes of neonatal diabetes found
A rare disease, neonatal diabetes occurs in the first six months of life - affecting approximately 1 in 100,000 births.
In a ground-breaking study, researchers at University of Exeter Medical School in Britain revealed two new genetic causes of neonatal diabetes.
Neonatal diabetes is caused by a change in a gene which affects insulin production. This means that levels of blood glucose (sugar) in the body rises dangerously high.
The team discovered that mutations in two specific genes which are important for development of the pancreas can cause the disease.
"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 Sarah Flanagan, lead author.
The study focused on 147 young people with neonatal diabetes.
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 - NKX2-2 and MNX1.
The genetic discovery is critical to the advancement of knowledge on how insulin-producing beta cells are formed in the pancreas. This could one day lead to a cure for neonatal diabetes, said the paper published in the journal Cell Metabolism.
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," added Alasdair Rankin, director of research, Diabetes UK.
(Posted on 08-01-2014)