Scientists have uncovered a previously unknown form of diabetes that affects newborns. This discovery provides insight into why insulin-producing cells might fail to function early in life. The study was published in The Journal of Clinical Investigation. The researchers identified that a gene known as TMEM167A, which was not well understood, can cause a rare type of diabetes that appears within the first few months of life.

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Diabetes in Infants

Some infants develop diabetes before they reach six months of age. In most cases, this is not due to lifestyle or diet, but rather to genetic changes inherited from their parents. In this study, scientists closely examined six children who had early-onset diabetes. These children also experienced neurological issues, including seizures (epilepsy) and abnormally small head size (microcephaly).

Upon analyzing the children's DNA, the researchers found that all six had mutations in the same gene, TMEM167A. This strongly indicated that the gene was responsible for both the diabetes and the neurological symptoms.

How Was the Study Done?

To understand the normal function of TMEM167A, the team conducted experiments using stem cells. These are special cells capable of becoming various types of cells. The researchers transformed stem cells into pancreatic beta cells, which produce insulin. They then used gene-editing techniques to disrupt the TMEM167A gene and observed the effects.

The results clearly showed that when TMEM167A was not functioning properly, the insulin-producing cells became stressed and ceased to work correctly. Over time, the stress led to the death of these cells. This explains why babies with this gene mutation cannot make enough insulin and develop diabetes at such an early age.

Diabetes Research

The research also revealed that TMEM167A is vital for brain cells, which helps explain the seizures and developmental issues seen in the children. Notably, the gene appears to have a lesser role in many other types of cells in the body.

This finding is significant not only for families affected by this rare condition but also for diabetes research more broadly. Understanding how insulin-producing cells malfunction can provide deeper insight into the fundamental processes behind diabetes in general. This knowledge could eventually help in the study of more common diabetes types, which impact hundreds of millions of people worldwide.

Researchers believe this work demonstrates how genetic studies and stem cell research can reveal hidden disease causes and pave the way for better diagnosis and future treatments.