Breakthrough: Dutch scientists find genetic variant that affects risk of type 1 diabetes

A single piece of genetic material influences whether someone develops type 1 diabetes, Dutch researchers discovered. People with one genetic variant are protected against this form of diabetes, while people with another variant are not. They believe that their discovery can help develop a personalized treatment and perhaps even a cure.

Researchers Bart Roep and René van Tienhoven, both of whom have diabetes, from the Leiden Unversity Medical Center (LUMC), wrote about this on Wednesday in the important scientific journal Cell.

With type 1 diabetes, the pancreas in the body cannot produce enough insulin. Insulin ensures that sugar is extracted from food and transported to the right place in the body. People who cannot do this can develop too high or too low blood sugar levels. They have to inject insulin every day to keep this under control.

“Two hundred decisions a day, a huge war of attrition,” is how Roep describes his life with diabetes. “Until now, we’ve treated the symptoms but not the cause. To cure type 1 diabetes, you have to tackle the cause,” said Roep.

Diabetes occurs in beta cells. Roep calls them “hard workers, each cell can produce a million particles of insulin per minute.” That work causes a kind of “stress” in the cells. In people with the protective gene variant, the cell can let off steam. The cell continues to work and those people are protected. With the other gene variant, the beta cell sounds the alarm during stress and ends up being destroyed by the immune system. That results in type 1 diabetes.

There is also an intermediate group - people who have the protective gene variant, but still develop type 1 diabetes. They experience far fewer health complaints.

According to Roep, gene therapy can provide the solution. “A single building block of the DNA makes the difference, a single letter in the code. If we change that, the effect of insulin remains the same. We do not take genes out and we do not put genes in.” Another option is to introduce new beta cells. “For example, from stem cells. We can then find or create the ideal donor.”

The discovery only applies to type 1 diabetes and not to type 2. The second variant of diabetes is related to an unhealthy lifestyle.

Over 100,00 people in the Netherlands have type 1 diabetes. More than a million people have type 2.