New genetic cause discovered for MS

Multiple sclerosis due to special gene variant

07/10/2012

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

As part of a genome-wide association study (GWAS), the researchers have examined the genetic material of about 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 identifies genetic causes of multiple sclerosis
The hitherto unknown genetic change in patients with multiple sclerosis mobilizes a certain docking site (receptor) in the nervous system, which means that the mobile receptors in the brain block the signaling molecule TNF alpha and thus trigger the typical MS inflammatory reactions. The gene variant researchers came on the track as part of a genome-wide association study in which the genome of 379 Europeans was examined first. The first indications that the gene variant may be associated with MS have already been identified here, as they have been detected particularly frequently in MS patients. Therefore, the scientists then analyzed the genome of 1,853 MS patients and 5,174 healthy volunteers in a control group. This confirmed the previously observed statistical correlation between the gene variant and the multiple sclerosis diseases.

Detected gene variant starting point for new MS therapies
The researchers also explored the causal link between the gene variant and the MS diseases, finding, according to Adam Gregory, that "the altered gene creates a new, soluble form of this receptor, the tumor necrosis factor alpha It has been previously known that certain drugs that block the tumor necrosis factor alpha may lead to a worsening of the course of the disease in MS patients. The blockade of TNF alpha promotes the MS-typical inflammation in the brain, which in turn are responsible for the destruction of the sheaths of the nerves. As a specific clue to MS, the newly discovered gene variant could not only facilitate diagnosis, but also provide a starting point for future therapies, explained the director of the Neurological Clinic at the University Hospital Bochum and co-author of the study, Professor Ralf Gold. Furthermore, knowledge about the interaction between TNF-alpha-blocking and the MS-typical inflammations could help to avoid treatment errors.

TNF alpha blocker unsuitable for multiple sclerosis
"In 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 medicines. Here is the blockage of TNF Alpha according to Prof. Gold an essential part of the therapy. In the case of the autoimmune disease MS, on the other hand, it is urgently necessary to dispense with such drugs, as this threatens to intensify the symptoms.

2.5 million MS patients worldwide
MS is based on a false attack of the body's defense system against the sheaths of the nerve fibers, whereby the transmission of the nerve signals is permanently impaired. According to experts, around 130,000 people in Germany suffer from multiple sclerosis, and around 2.5 million people worldwide are affected. MS is particularly prevalent in women and usually begins in young adulthood, with the disease reaching its peak between the ages of 20 and 45 years. (Fp)

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