Type 2 diabetes is one of the most common and serious health problems in the world today. Millions of people live with this condition, and many do not even realise they have it in the early stages.
Type 2 diabetes happens when the body can no longer use insulin properly, and the pancreas cannot produce enough insulin to keep blood sugar at safe levels.
Over time, high blood sugar can damage many parts of the body, including the eyes, kidneys, сердце, nerves, and blood vessels. This can lead to blindness, kidney failure, heart disease, stroke, and even early death.
For many years, scientists have tried to understand why some people develop type 2 diabetes while others do not. Large genetic studies, called genome-wide association studies, have already discovered hundreds of small genetic changes that increase a person’s risk of developing this disease.
However, a major puzzle remained. Most of these genetic changes are found in parts of DNA that do not directly make proteins. This made it very difficult to understand how these risky genetic areas actually change the behaviour of important cells in the body, especially the insulin-producing cells in the pancreas.
In a groundbreaking study published in the journal Nature on November 8, researchers made a big step forward in solving this puzzle. Instead of studying animals or laboratory-grown cells, the scientists used real human pancreatic islets.
These are tiny groups of cells in the pancreas that contain beta cells, the special cells that make and release insulin. Human islets are very different from those of mice or other animals, so studying them directly provided much more accurate and meaningful information for understanding human disease.
The research team used a special collection of pancreatic tissue called the Vanderbilt Pancreas Biorepository. This biorepository has been built up over more than ten years and contains tissue and islet samples from many different organ donors.
Some of the donated tissue came from people who were in the early stages of type 2 diabetes, while other samples came from people without the disease. This allowed the scientists to compare what was happening inside healthy islets and islets that were beginning to fail.
The researchers carefully examined how the islets functioned, how the genes inside the cells were being used, and how the cells were arranged inside the islets. They used advanced techniques to measure gene activity and to look at the structure of the cells in great detail. What they found was surprising.
In early-stage type 2 diabetes, the number of beta cells was not much lower than normal. This means that the disease does not start mainly because the beta cells disappear. Instead, the problem is that the beta cells stop working properly, even though they are still there.
The team then searched for a central control system that might be causing this malfunction. They discovered that one important gene, called RFX6, plays a powerful role in controlling many other genes inside beta cells.
RFX6 is a transcription factor, which means it acts like a master switch that turns other genes on or off. In healthy beta cells, RFX6 helps maintain normal function, including the ability of the cells to sense sugar and release the right amount of insulin.
In people with type 2 diabetes, the researchers found that levels of RFX6 were lower inside beta cells. When RFX6 was reduced, the beta cells became less able to release insulin properly.
The structure of the DNA inside the cells also changed in areas linked to type 2 diabetes risk. This showed that RFX6 is closely tied to both gene regulation and the physical organisation of genetic material in beta cells.
To make their findings even stronger, the scientists also looked at genetic data from almost half a million people in the UK Biobank. They found that people who were more likely to have lower expression of RFX6 in their pancreatic islets also had a higher risk of developing type 2 diabetes.
This helped prove that the link between RFX6 and diabetes was not just a coincidence in a small group of donors, but something that could be seen across a very large population.
This discovery is important because it shifts part of the focus of type 2 diabetes research. It shows that the disease is not only about losing beta cells, but also about a breakdown in the control systems inside those cells.
If scientists can find ways to restore or protect the activity of RFX6, they may be able to improve beta cell function before the disease becomes severe. In the future, this could lead to new treatments that aim to prevent type 2 diabetes or even help reverse it in its early stages.
In reviewing and analysing the findings of this study, it is clear that the researchers have uncovered a key piece of the type 2 diabetes puzzle. By showing that beta cell dysfunction, driven by reduced RFX6 activity, is a major feature of early-stage disease, they have provided a clearer biological explanation of how genetic risk leads to real damage inside the pancreas.
The use of real human tissue makes the findings especially powerful and relevant. While more research is still needed to confirm these results in other populations and to turn this knowledge into therapies, this study represents a major step forward.
It opens the door to a new generation of treatments that focus on protecting and repairing beta cell function, which could benefit millions of people living with or at risk of type 2 diabetes around the world.
If you care about diabetes, please read studies about Vitamin D and type 2 diabetes, and what you need to know about avocado and type 2 diabetes.
For more information about diabetes, please see recent studies about how to eat to prevent type 2 diabetes, and 5 vitamins that may prevent complication in diabetes.
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