Discovery of a rare gene that causes neonatal diabetes – international study
In a groundbreaking medical achievement, an international research team from the University of Exeter in the UK and the Free University of Brussels has successfully identified a rare and previously unknown genetic variant of diabetes affecting newborns. This discovery sheds light on a defect in a specific gene that directly and fundamentally impacts the body's ability to produce insulin, opening new avenues for understanding the biology of this complex disease.
Details of the discovery and the causative gene
Researchers, in a study published on SciTechDaily, explained that genetic changes in a gene known as TMEM167A are the primary cause of this rare form of neonatal diabetes. Symptoms of this disease typically appear within the first six months of a child's life. The study involved a detailed examination of six children who had been diagnosed with diabetes at birth, along with accompanying neurological disorders, most notably epilepsy and microcephaly. Advanced genetic analysis confirmed that all of these children shared mutations within the same gene, underscoring its crucial role in the development of this complex condition.
Advanced technologies reveal the mechanism of the disease
To understand how this gene works, scientists used advanced laboratory techniques, including stem cell therapy and the gene-editing technology known as CRISPR, to mimic the disease in vitro. The results showed that the absence of function in the TMEM167A gene leads to a state of "chronic cellular stress," which ultimately results in the death of beta cells in the pancreas—the cells responsible for insulin production—thus explaining the body's inability to regulate blood sugar levels.
Disease context and the importance of genetic diagnosis
Neonatal diabetes is a rare condition, radically different from type 1 diabetes in older children, as it is often caused by a monogenic mutation in a single gene rather than an autoimmune reaction. The significance of this discovery lies in the fact that it provides a clear explanation for families of affected children who have suffered for years from the ambiguity of the diagnosis, especially given the accompanying neurological symptoms that have complicated the medical picture.
Future impact and global burden
The research team confirmed that this discovery represents a pivotal step towards understanding the precise biological mechanisms of human beta cells. This model offers an opportunity to develop more accurate diagnostic strategies and treatments in the future, falling under the umbrella of "precision medicine." This comes at a time when World Health Organization statistics indicate that diabetes affects approximately 589 million people worldwide, with more than 85% of neonatal diabetes cases specifically attributable to inherited genetic mutations, making genetic research a cornerstone in addressing this health challenge.
