Researchers recently released a study showing that a rare gene mutation prevents people from developing type 2 diabetes. In type 2 diabetes, the body develops a resistance to insulin, the hormone responsible for sugar uptake.
This causes the buildup of more sugar in a person’s blood than normal, which places him or her at risk for several secondary conditions. The study found that the removal of the ZNT8 gene helps to reduce the risk of diabetes by 66%.
The results of this research may someday be used to develop a medicine to help people afflicted by diabetes.
How type 2 diabetes operates
Type 2 Diabetes develops due to a combination of both genetic and environmental factors. When people eat too much sugar, the body’s cells develop a resistance to insulin, the hormone that allows cells to absorb that sugar.
Over time, more sugar is needed to get the same amount of energy. Genetic factors such as a relative lack of insulin, or a predisposition to related causes such as obesity, also promote the likelihood that someone will develop type 2 diabetes.
At first, people typically don’t realize they have diabetes. The signs, such as frequent urination and fatigue, are often attributed to other causes.
Many people find out upon routine blood sugar testing. Despite the lack of early warning symptoms, diabetes has major consequences later in life. Heart disease, stroke, and blindness can all result.
Nerve damage and poor circulation are other major issues. Because diabetes is one of the largest public health threats in the developed world, the recent study aimed to understand why certain people display a genetic resistance to diabetes.
The study’s methodology
The researchers genetically tested 150,000 individuals. Most of them were from Sweden and Finland. After examining several different subgroups, the researchers found that almost no one who had a mutation that destroys the ZNT8 gene went on to develop diabetes. This occurred in spite of their weight and activity levels.
Patients with diabetes lacked the mutation almost entirely. Many patients without the mutation developed diabetes regardless of exercise regimen or lack of excess weight.
Researchers believe the gene is tied to how the pancreas produces insulin. Those who have the mutation tend to make more insulin, and therefore have lower levels of blood sugar.
One reason this study stands out is that it contradicts what was found in studies on other animals. The study was initially refused publication because it contradicted diabetes data from research on mice.
Implications of the study’s findings
Scientists hope that one day the gene destroyed in the mutation may be the target of effective drug therapies. While robotic surgery techniques have made insulin pumps considerably easier for patients to receive, a pill may one day prevent the need for insulin pumps and constant blood sugar monitoring.
Given the scale of the disease, and the amount of damage and stress it causes individuals and society, an effective drug would be nothing short of a miracle.