Model of the genetic molecule DNA: gene variant seems to favor multiple sclerosis
Those who suffer from multiple sclerosis? Researchers have discovered a gene variant that have MS patients are more likely than healthy – they may contribute to the emergence of the disease.
Multiple sclerosis (MS) is an autoimmune disease: The body’s own defenses attack the sheaths of nerve fibers and thereby interfere progressively the transmission of nerve signals. Now, researchers report in the scientific journal “Nature” on a previously unknown genetic cause of MS.
Affected by the disease have more often than healthy a gene variant that makes a specific docking site in their nervous system, soluble and therefore mobile. Therefore this block in the brain is an important signaling molecule of the immune system, known as tumor necrosis factor (TNF), and thus the triggering of multiple sclerosis typical inflammation.The gene variant that WOULD like certain drugs, of which one knew that they reinforce the MS.
The newly discovered relationship is specific to the MS, an approach for the development of new therapies, says Ralf Gold, director of the Neurological Clinic at the Ruhr-University Bochum, one of the co-authors of the study. In addition, the new knowledge could help prevent major medical malpractice.
“In clinical practice, we find that blocking drugs, the TNF-alpha, leading only in multiple sclerosis, but not in other autoimmune diseases in a deterioration of the disease,” says Gold.
In other autoimmune diseases such as rheumatism, however, this blockade is an essential cornerstone of therapy.
Women more often affected than men
About 130,000 people suffer, according to the researchers in Germany alone, multiple sclerosis, worldwide there are 2.5 million. Women are two to three times more frequently affected than men. The disease often begins in young adulthood, the peak incidence is between 20 and 45 Of age.
So far we have already some other genetic risk factors for multiple sclerosis discovered, but these were generally not specific to only this disease, and their relevance to medicine is controversial, the researchers say. The new gene variant, the scientists discovered in a genome-wide association study (GWAS). In these patients’ genotypes will be studied systematically altered by genetic variants.
In such an analysis at 379 Europeans, the researchers had noticed a gene variant that occurred more frequently in MS patients. They checked it and then in 1853 MS patients and 5174 healthy control subjects.The result: “The statistical analysis showed this gene variant to be the strongest with MS related signal,” write Adam Gregory from the University of Oxford in Great Britain and his colleagues, including researchers from the Universities of Bochum and Düsseldorf, as well as scientists from the Max Planck Institute for Biochemistry in Martinsried included.
Next, the researchers examined the impact of the change in this gene. They found that in a docking site, which is known as TNF receptor 1 changes.
“The mutated gene creates a new, soluble form of the receptor that can block tumor necrosis factor,” Gregory and his colleagues write.
This process in turn promotes the MS-typical inflammation in the brain, which destroyed the sheaths of the nerves.
The newly discovered gene variant can therefore contribute to the creation of multiple sclerosis – the only trigger but it is not. Thus far, research results suggest that an increased risk of MS is indeed inherited, but that play and environmental factors play a role in determining whether the disease breaks out or not.