New genetic cause for MS discovered

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Multiple sclerosis due to special gene variant

A special gene variant has a significant share in the disease in patients with multiple sclerosis (MS). An international team of researchers led by Adam P. Gregory and Calliope A. Dendrou from the University of Oxford (UK) identified a gene variant that leads to a blockage of the so-called tumor necrosis factor alpha (TNF alpha) in MS patients typical inflammatory symptoms of multiple sclerosis.

As part of a genome-wide association study (GWAS), the researchers examined the genetic makeup of around 2,000 MS patients and identified the special gene variant "as the strongest signal associated with MS", reports Adam Gregory in the journal "Nature".

Genome-wide association study determines genetic causes of multiple sclerosis The previously unknown genetic change mobilizes a certain docking point (receptor) in the nervous system in patients with multiple sclerosis, which means that the mobile receptors in the brain block the signaling molecule TNF alpha and thus the typical MS - trigger inflammatory reactions. The researchers discovered the gene variant in a genome-wide association study in which the genome of 379 Europeans was first examined. Here, there were first indications that the gene variant may be related to MS, because it was detected particularly often in MS patients. Therefore, the scientists subsequently analyzed the genome of 1,853 MS patients and 5,174 healthy subjects in a control group. This confirmed the previously observed statistical relationship between the gene variant and the multiple sclerosis diseases.

Discovered gene variant Starting point for new MS therapies The researchers also got to the bottom of the causal relationship between the discovered gene variant and the MS diseases and, according to Adam Gregory, found that “the modified gene creates a new, soluble form of this receptor that can block the tumor necrosis factor alpha. ”It was previously known that certain drugs that block the tumor necrosis factor alpha could lead to a worsening of the course of the disease in MS patients. The blockade of TNF Alpha promotes MS-typical inflammation in the brain, which in turn is responsible for the destruction of the sheaths of the nerves. As a specific reference point for MS, the newly discovered gene variant could not only facilitate diagnosis, but also form a starting point for future therapies, explained the director of the neurological clinic at the University Clinic of the Ruhr University in Bochum and co-author of the study, Professor Ralf Gold. Furthermore, knowledge of the interrelationship between TNF-alpha blocking and MS-typical inflammation can help to avoid treatment errors.

TNF-Alpha blocker unsuitable for multiple sclerosis Because "in everyday clinical practice, we find that drugs that block TNF alpha only lead to a worsening of the course of the disease in multiple sclerosis, but not in other autoimmune diseases," says Prof. Gold. Patients with other autoimmune diseases, such as severe rheumatism, can therefore continue to be treated with appropriate drugs. According to Prof. Gold, the blockade of TNF Alpha is an essential part of the therapy. In the autoimmune disease MS, on the other hand, it is imperative to avoid such medications, since there is a risk of the symptoms becoming worse.

2.5 million MS patients worldwide MS is based on a false attack by the body's defense system against the sheaths of the nerve fibers, which has a lasting effect on the transmission of nerve signals. Experts estimate that around 130,000 people in Germany suffer from multiple sclerosis, and around 2.5 million people worldwide are affected. MS is particularly common for women and usually begins in young adulthood, with the disease reaching its peak between the ages of 20 and 45. (fp)

Also read:
World MS Day: Multiple sclerosis is not yet curable
New risk genes for multiple sclerosis discovered
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Preventive vaccination against multiple sclerosis?
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