Identified a region of chromosome 13 as a risk factor in Multiple Sclerosis.

It is published in the journal PLoS One:

This discovery is a breakthrough in understanding a disease that affects one in 1,000 people. The Research Institute of lHospital Universitari de la Vall dHebron presented as a benchmark in the latest scientific knowledge about the disease produced.

The research group in Neuroimmunology Clinical Research Institute of dHebron lHospital Barcelona Universitari Vall (IR-HUVH), led by Dr. Xavier Montalban, has participated in this study Multiple Sclerosis, a degenerative disease of origin unknown and no definitive cure. These results, published in the journal PloS One, acquire a top-level importance in the genetic knowledge of Multiple Sclerosis, and pointing to a new region on chromosome 13 as a risk factor for developing the disease. Moreover, not only contribute information to this effect, but the results also imply, most likely, a group of microRNAs located in this new region as key elements in the risk of developing the disease.

Multiple sclerosis is a neurodegenerative disease, chronic non-contagious and seriously affecting the mobility of the individual producing progressive disability. In fact, in Western countries, is the first most common cause of neurological disability. The symptoms appear when patients are between 20 and 40 years (most common neurological disease among young people, after epilepsy) and currently has no cure, although investigations have been started on drugs that could slow the process .

For this reason, the group of IR-HUVH Neuroimmunology focuses its research with the aim of improving the quality of life for patients with Multiple Sclerosis (MS) and deeper understanding of the pathogenic mechanisms of the disease, so develop new therapeutic treatments more effective. The success of this group lies in its direct involvement in the new advances in diagnosis, pathogenesis and therapy.

The study: a possible starting point for a new line of research

The IR-HUVH researchers conducted several previous steps until finally, they found two susceptibility genes of interest. First, they studied a group of 250 patients affected by Multiple Sclerosis (MS) and compared the results with control group of 250 healthy people in order to determine differences among some 500,000 polymorphisms within the genetic information. In particular, they studied what are called Snips-SNPs (Single Nucleotide Polimorphism) - or variants of the gene sequence for each individual, ie those most common variations, known and associated with our normal population. However, the polymorphisms studied 5000.000, and applying different criteria, differences were demonstrated between 384 SNPs.

Later, in a second step, these 384 genes were compared between 100 affected by MS and 100 healthy individuals. As a result of the comparison, there were Snips 8 genes that are expressed significantly in patients with sclerosis compared with healthy individuals.

Finally, a third step, no more validated SNPs 2 genes, one found in the HLA region (closely associated, by other studies, multiple sclerosis) and the other in another region that has not been associated with this disease before .

These results reinforce and give coherence to the study hypothesis, since, as already known for some time, there is a strong association between HLA genes and Multiple Sclerosis. The fact that one of the SNPs associated with disease is in the HLA region validates the methodology used in the study. Moreover, in recent decades, many researchers have attempted to identify new genes not associated with HLA but, so far, the results were not satisfactory enough. For this reason, researchers at the IR-HUVH offer thus an important step in identifying a new region located on chromosome 13q31.3 as a risk factor.

In this new area of concern identified include a group of microRNAs that may be responsible for risk of disease, explains Dr. Manel Comabella responsible for this study. These microRNAs are small molecules and proteins that do not translate that regulate the expression of other genes. MicroRNAs have been known for some time and its role in multiple sclerosis is unknown.

Similarly, another research group has found that the expression of some microRNAs in this region are different between patients with MS and individuals without the presence of the disease. This finding provides indirect evidence about the importance of this group of microRNAs, while reinforcing the importance of our findings, Dr. Comabella concrete. We are now studying how microRNAs influence this group and other genes that are very close to this region, the risk for this disease.