New Causes of Diabetes in Babies Discovered - The New Indian Express

New Causes of Diabetes in Babies Discovered

Published: 08th January 2014 06:00 PM

Last Updated: 08th January 2014 06:00 PM

Scientists have found two new genetic causes of neonatal diabetes - a form of diabetes that occurs in the first 6 months of life.    

The research by the University of Exeter Medical School provides further insights on how the insulin-producing beta cells are formed in the pancreas.         

The team discovered that mutations in two specific genes which are important for development of the pancreas can cause the disease.            

These findings increase 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," Dr Sarah Flanagan, lead author on the paper, said.          

"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," said Flanagan.   "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 helps us understand how the pancreas develops.      

"The results of this study are critical to bringing the day closer when this type of treatment is possible," Dr Alasdair Rankin, from Diabetes UK Director of Research, said. 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 rise dangerously high.       

The team recruited over 1200 patients from more than 80 countries.           

This specific study focused on 147 young people with neonatal diabetes, a rare condition which affects approximately 1 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 (NKX2-2 and MNX1).            

The study was published in the journal Cell Metabolism.  

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