Study links gene mutation to development of neonatal diabetes

The discovery of a mechanism involved in gene mutation could help researchers understand why some babies develop a rare form of diabetes.
Neonatal diabetes mellitus usually occurs in children who are less than six months old. It is different to type 1 diabetes as it not an autoimmune condition.
Researchers understand it is caused by an insulin-affecting gene which leads to blood sugar levels rising too high. The symptoms include extreme thirst and frequent urination.
Scientists at the University of Helsinki believe a gene mutation in the STAT3 gene could be the cause of the most severe form of neonatal diabetes.
The mutatio, which was found in a patient back in 2014, activates the STAT gene which then affects the way the pancreas works.
Professor Timo Otonkoskin, who led the study, used induced pluripotent stem cells (iPS) – cells that can be generated directly from adult cells – to study the effect of the STAT3 mutation more closely.
Professor Otonkoski said: “These results reveal the previously unknown significance of the STAT3 gene to pancreatic development.
“We also successfully used new stem cell technologies and genome editing methods that enable high-precision analysis of the mechanisms underlying disease mutations. We intend to use the same approach to study other diabetes genes in the future.”
Jonna Saarimaki-Vire, postdoctoral researcher and first author of the article, said: “The impact of the mutated STAT3 protein mechanism we discovered accounts for the underdeveloped pancreas and the early onset of diabetes, even without the damage done by autoimmune mechanisms.”
A genetic test is available for all children who have been diagnosed with neonatal diabetes under nine months in order to determine more about their condition and the best treatment pathway for them.
The study was published in Cell Reports.

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