Researchers at the Radboudumc in Nijmegen report that they have found genetic abnormalities that may contribute to an increased risk of MS. According to the scientists, the results represent an important step towards a better control of the disease.
Genetic factors play a role in the development of MS, but much is still unclear about the cause of MS. The scientists involved report having found a number of abnormalities that may contribute to a higher risk of the disease. In the long term, these discoveries can help combat the cause of MS. The results of the Radboudumc study have not yet been published. However, researchers are already reporting their discovery on Monday in a press release from the National MS Fund.
Researcher Geert Poelmans states that around ten abnormalities have been found. The most important of these is an error in the MBP gene. This gene produces a protein that is important for forming a protective layer around the ends of nerve cells in the brain. This so-called myelin sheath is important because it helps conduct electrical signals in the brain.
In MS, the immune system attacks this protective layer, exposing the nerve cells and disrupting communication in the brain. The result is that body functions partially or completely fail, with possible paralysis as a result. For example, patients with MS can suddenly end up in a wheelchair or lose their sight.
Error detected in MBP gene for the first time
For the first time, the researchers have now discovered a specific error in the MBP gene that ensures that this protective layer is no longer properly repaired in MS patients. With follow-up research, Poelmans hopes to find a way to rebuild the myelin layer after damage.
"Good medication is available to counteract the immune system attack," says Poelmans. But he goes on to say that this is not enough: the underlying problem is that the myelin sheath continues to be damaged even if the medication is taken. MS patients appear to be less able to repair this casing than people who do not have MS.
Researchers studied families with MS more often
The discoveries were made by studying a rare occurrence: families in which several people have MS. Hereditary factors play a role in MS. This means that when a combination of different genes is present, the risk of the disease is higher, but the disease cannot simply be transmitted one-to-one. The exact cause of MS is not yet clear.
Poelmans and his colleagues made a national call to find families with MS more often and analyzed DNA samples from family members with and without the disease. The researchers found a total of nine families in the Netherlands with MS multiple times. By comparing the samples, the team was able to determine, among other things, the deviation from the MBP gene.
The research is funded by the National MS Fund, which starts this week with the MS Collection Week. 750,000 euros is needed for the follow-up research.