Have Scientists Discovered a New Type of Diabetes in Infants Under 6 Months?
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Key Takeaways
New Delhi, Oct 9 (NationPress) An international team of researchers has identified a new form of diabetes in infants younger than six months. Remarkably, over 85% of these cases are attributed to a genetic mutation present in their DNA.
Utilizing cutting-edge DNA sequencing methods and innovative stem cell research, the team from the University of Exeter in the UK and Université Libre de Bruxelles (ULB) pinpointed mutations in the TMEM167A gene, which is linked to a rare kind of neonatal diabetes.
The research uncovered that six affected children, who also presented additional neurological issues such as epilepsy and microcephaly, exhibited alterations in the TMEM167A gene.
Dr. Elisa de Franco from the University of Exeter stated, "Identifying the DNA variations that trigger diabetes in infants provides a unique opportunity to explore the genes that are crucial for the production and secretion of insulin. Our collaborative research revealed specific DNA mutations responsible for this rare diabetes type in six children, enhancing our understanding of the less-known TMEM167A gene and its critical role in insulin secretion."
To further investigate, the team utilized stem cells transformed into pancreatic beta cells and employed gene-editing techniques such as CRISPR. They discovered that when the TMEM167A gene is mutated, insulin-producing cells lose their functionality and trigger stress mechanisms that lead to cell death.
Professor Miriam Cnop from ULB remarked, "The capacity to create insulin-secreting cells from stem cells has allowed us to investigate the dysfunctions in the beta cells of patients with rare forms and various diabetes types. This model is exceptional for exploring disease mechanisms and testing potential treatments."
This groundbreaking discovery, published in the Journal of Clinical Investigation, indicates that the TMEM167A gene is vital for the proper operation of insulin-producing beta cells and neurons, while appearing unnecessary for other cell types. These findings enhance our understanding of the essential processes in insulin production and could illuminate research into other diabetes forms, a condition that currently impacts nearly 589 million individuals worldwide.