An international team of researchers has pinpointed a specific genetic mutation as the cause of a rare form of diabetes appearing in infancy, offering new hope for earlier diagnosis and targeted therapies. The condition, known as neonatal diabetes, affects infants within their first few months of life and is frequently enough linked to underlying genetic defects [[1]]. This revelation focuses on the TMEM167A gene and may provide insights applicable to broader diabetes research, as even common forms of the disease have genetic components [[2]], [[3]]. The findings, published this week, reveal a connection between this gene and not only insulin production but also neurological development.
Researchers have identified a rare and previously unknown form of diabetes appearing in infants within their first few months of life. The condition is linked to a genetic defect impacting the body’s ability to produce insulin, offering a crucial step forward in understanding the complex biology behind diabetes, particularly in its earliest stages. Early diagnosis and understanding of the underlying causes of diabetes are vital for improving patient outcomes and developing targeted therapies.
The discovery, led by scientists at the University of Exeter Medical School in the United Kingdom, in collaboration with the Université Libre de Bruxelles (ULB) in Belgium and other international research institutions, points to genetic changes in a gene called TMEM167A as the direct cause of this rare neonatal diabetes, according to scitechdaily.
Diabetes can emerge in some children during the first six months of life, and statistics indicate that over 85% of these cases are due to inherited genetic mutations.
In the study, scientists examined six children diagnosed with diabetes from birth, all of whom also experienced neurological issues such as seizures and microcephaly (small head size).
Genetic analysis revealed that all six children shared mutations in the same gene, TMEM167A, providing strong evidence of its critical role in the development of the disease.
To understand how this gene functions, a research team at the Université Libre de Bruxelles utilized stem cells, directing them to develop into pancreatic beta cells – the cells responsible for insulin production. Researchers also employed advanced gene-editing techniques (CRISPR) to disable the gene’s function.
The results showed that the absence of functional TMEM167A led to severe dysfunction in the insulin-producing cells, exposing them to chronic cellular stress that ultimately resulted in cell death and a loss of insulin secretion.
“This discovery provides a unique window into the fundamental genes responsible for insulin production and release,” said Dr. Elisa De Franco, a researcher at the University of Exeter. “Studying rare cases helps scientists uncover disease mechanisms that may be shared with other types of diabetes.”
Professor Miriam Cnop from the Université Libre de Bruxelles explained that using stem cells allowed for a sophisticated model to study the dysfunction within human beta cells, representing a promising tool for testing future treatments.
The study also revealed that the TMEM167A gene isn’t limited to pancreatic cells; it’s also essential for the function of nerve cells, while appearing less important in other cell types.
Researchers believe these findings contribute to a broader scientific understanding of diabetes, which currently affects approximately 589 million people worldwide, and could pave the way for more precise diagnostic and treatment strategies in the future. A deeper understanding of the genetic factors involved in diabetes is crucial for developing personalized medicine approaches and improving patient care.
