Scientists identify rare gene causing infant diabetes and neurological issues

Produced by: Mohsin Shaikh

Rare Discovery

Scientists have identified a brand-new type of diabetes affecting infants younger than six months, marking a major breakthrough in childhood health research.

Genetic Link

This new diabetes type is caused by a previously unknown gene alteration, TMEM167A, distinguishing it from other forms of infant and childhood diabetes.

Neurological Symptoms

Affected babies also showed neurological issues, including epilepsy and unusually small heads, highlighting a unique combination of metabolic and brain-related effects.

Representative pic

Gene Function

TMEM167A is crucial for pancreatic beta cells to make and release insulin, regulating blood sugar levels in the body. Faulty genes cause cell stress, death, and the onset of diabetes.

Advanced Techniques

Researchers used CRISPR and stem cell technology to study the gene in detail, revealing its role in insulin production and why the disease develops in infants.

Collaborative Effort

The study was conducted by the University of Exeter Medical School in collaboration with Université Libre de Bruxelles and international partners, showing a global effort in pediatric research.

Lab Insights

Insulin-producing cells were created from stem cells to observe TMEM167A malfunction, offering scientists a window into the disease’s mechanics at a cellular level.

Therapeutic Potential

Understanding this gene opens pathways for new treatments, including potentially novel medicines specifically designed for rare infant diabetes.

Global Implications

The discovery not only aids rare cases but may also provide insights into other forms of diabetes affecting millions worldwide, improving understanding and treatment strategies.