Advanced DNA sequencing and innovative stem cell research have allowed an international team of scientists to identify a new form of diabetes that affects infants. This rare type of diabetes can appear in babies under six months old, causing symptoms such as fatigue, poor weight gain, and excessive thirst. Using cutting-edge DNA sequencing and a novel stem cell model, researchers from the University of Exeter in the UK and Université Libre de Bruxelles (ULB) pinpointed mutations in the TMEM167A gene, which is linked to this uncommon form of neonatal diabetes. Let’s take a closer look at the study.The Study and Its FindingsPublished in the Journal of Clinical Investigation (JCI), the study involved researchers from the University of Exeter Medical School, ULB in Belgium, and other collaborators. They discovered that more than 85% of neonatal diabetes cases registered are associated with a genetic mutation. Advanced DNA sequencing and the new stem cell model enabled the team to identify alterations in the TMEM167A gene, which is responsible for this rare condition in infants.Role of TMEM167A GeneInvestigating how this gene influences diabetes in babies under six months, Professor Miriam Cnop and her team at ULB found that when the TMEM167A gene is altered, insulin-producing cells fail to function properly. This triggers cellular stress mechanisms that can even lead to cell death.“Identifying the DNA changes behind diabetes in infants gives us a unique window into the genes that are essential for insulin production and secretion. In this collaborative study, pinpointing specific DNA mutations in six children helped us uncover the role of the little-known TMEM167A gene, showing its crucial role in insulin secretion,” explained Dr. Elisa de Franco of the University of Exeter.What Is Neonatal Diabetes?Neonatal diabetes mellitus (NDM) is a rare form of diabetes caused by a single gene mutation, showing up within the first six months of a baby’s life. It leads to high blood sugar because the body doesn’t produce enough insulin. In some cases, the condition is permanent, lasting a lifetime, while in others, it may disappear during infancy but could return later in life.Symptoms of Neonatal DiabetesAccording to the Nationwide Children’s Hospital, infants under six months with neonatal diabetes may display symptoms such as dehydration, increased hunger, and frequent wet diapers.How Common Is Neonatal Diabetes?Neonatal diabetes is an extremely rare condition that appears in babies within the first six months of life. The National Institutes of Health (NIH) estimates it occurs in roughly 1 in every 90,000 to 400,000 births.Neonatal Diabetes: What Parents Should Keep in MindParents of infants diagnosed with neonatal diabetes should monitor their baby closely for signs of dehydration, unusual fatigue, or poor feeding. Regular medical check-ups and frequent blood sugar monitoring are crucial. It’s also important to maintain a consistent feeding schedule and follow the treatment plan prescribed by pediatric endocrinologists. Early intervention, careful observation, and support from healthcare providers can help manage symptoms and ensure healthier growth and development.
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