A groundbreaking study published in Nature Genetics has revealed a unique discovery about the development of the human pancreas. This discovery is crucial for scientists’ quest to cure type 1 diabetes by producing insulin-producing beta cells. The pancreas produces insulin, which regulates blood sugar and is essential for survival in all mammals. However, people with type 1 diabetes have very few or no functional beta cells in their pancreas.
The study challenges previous ideas about the evolution of developmental regulation, as a specific gene that is essential for producing the pancreas in humans is not present in other animals. This gene, called ZNF808, is only found in humans, other apes, and some monkeys. The research emphasizes the unique differences between humans and other animals, such as mice, which are often used in scientific research.
Further research is being conducted to explore the evolutionary benefit of the ZNF808 gene in human development. It is hypothesized that this gene plays a vital role in regulating insulin-related growth in human fetuses, particularly in the development of the human pancreas. The study also shows the potential importance of genes like ZNF808, which are relatively recent in evolutionary terms, in human health.
The discovery of ZNF808’s involvement in pancreatic development was made possible by genetic samples from patients born without a pancreas. Among these patients was Tania Bashir, who was born without a pancreas and has lived with neonatal diabetes. A decade later, whole-exome sequencing identified the gene crucial to pancreas development, which is absent in other mammals, offering hope for better treatments and potential cures for type 1 diabetes.
The study emphasizes the importance of studying human samples to understand organ development and function. It also holds the potential for manipulating stem cells to produce insulin-producing beta cells and cure type 1 diabetes. Tania Bashir’s story and the contribution of people like her to scientific research are essential to understanding the unique development of the human pancreas.
Ultimately, this research represents a significant step toward understanding what makes the human pancreas unique and could lead to new treatments for type 1 diabetes.