Scientists using advanced DNA sequencing technologies and a new model of stem cell research identified the mutation of the TMEM167A gene, which is responsible for the rare type of neonatal diabetes.

In a breakthrough discovery, international scientists found a new type of diabetes that can affect babies under the age of 6 months, leaving them fatigued, underweight and with extreme thirst, etc.
The new study, which is now published in the Journal of Clinical Investigation (JCI) revealed that a team of reseachers from the University of Exeter Medical School in the UK, along with Universit Libre de Bruxelles (ULB) in Belgium and other partners, found over 85 per cent of neonatal diabetes cases being registered are mostly due to a genetic mutation in their DNA.
A method called advanced DNA sequencing technologies and a new model of stem cell research have enabled the team of researchers from both universities to identify the mutation of the TMEM167A gene, which is responsible for the rare type of neonatal diabetes.
Role Of TMEM167A Gene
While examining the role of this particular gene influencing diabetes in babies under 6 months, a team led by ULB researcher Professor Miriam Cnop found that as the TMEM167A gene is altered, the insulin-producing cells stop playing their role, which then activates the stress mechanisms that can lead to death.
“Finding the DNA changes that cause diabetes in babies gives us a unique way to find the genes that play key roles in making and secreting insulin. In this collaborative study, the finding of specific DNA changes causing this rare type of diabetes in six children, led us to clarifying the function of a little-known gene, TMEM167A, showing how it plays a key role in insulin secretion,” said Dr. Elisa de Franco, at the University of Exeter.
Professor Cnop added, “The ability to generate insulin-producing cells from stem cells has enabled us to study what is dysfunctional in the beta cells of patients with rare forms as well as other types of diabetes. This is an extraordinary model for studying disease mechanisms and testing treatments.”
Symptoms Of Neonatal Diabetes
According to the Nationwide Children’s Hospital, babies under 6 months diagnosed with neonatal diabetes may show symptoms like dehydration, increased appetite and increased number of wet diapers.
How Common Is Neonatal Diabetes?
Neonatal diabetes is a rare disorder that occurs at the onset of diabetes in babies under the age of 6 months. According to the National Institute of Health (NIH), neonatal diabetes usually affects “1 in every 90,000 400,000 births.”
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