An international team of researchers has discovered a rare and previously unknown type of diabetes that appears in children during the first months of their lives, and is linked to a genetic defect that directly affects the body’s ability to produce insulin. This discovery is an important step towards a deeper understanding of the complex biological mechanisms behind diabetes, especially in its early stages.
The study, led by researchers from the Faculty of Medicine at the British University of Exeter in cooperation with the Free University of Brussels (ULB) in Belgium and a number of international research institutions, revealed that genetic changes in a gene known as TMEM167A are the direct cause of this rare type of neonatal diabetes, according to the scitechdaily website.
It is known that diabetes may appear in some children during the first six months of life, and statistics indicate that more than 85% of these cases are due to inherited genetic mutations.
As part of the study, scientists examined six children who had diabetes from birth, in addition to suffering from neurological disorders such as epilepsy and microcephaly.
Genetic analyzes showed that all of these children shared mutations in the same gene, TMEM167A, providing strong evidence of its crucial role in the development of the disease.
To understand how this gene affects, a research team at the Free University of Brussels resorted to using stem cells, which were directed to transform into pancreatic beta cells responsible for producing insulin. The researchers also used advanced gene editing techniques (CRISPR) to disable the gene.
The results showed that the absence of TMEM167A function leads to a severe defect in insulin-producing cells, exposing them to chronic cellular stress that ends with their death and loss of the ability to secrete insulin.
Dr. Elisa Di Franco, a researcher at the University of Exeter, said that this discovery provides a “unique window” to understanding the basic genes responsible for insulin synthesis and secretion, stressing that studying rare cases helps scientists uncover disease mechanisms that may be shared with other types of diabetes.
For her part, Professor Myriam Knoop from the Free University of Brussels explained that the use of stem cells provided an advanced model for studying the defect within human beta cells, and represents a promising tool for testing future treatments.
The study also showed that the role of the TMEM167A gene is not limited to pancreatic cells, but is essential for the functions of nerve cells, while it appears to be less important for other types of cells.
The researchers believe that these results contribute to expanding scientific understanding of diabetes, which currently affects about 589 million people around the world, and may pave the way for developing more accurate diagnosis and treatment strategies in the future.