11:12pm Saturday 20 October 2018

Researchers Successfully Complete Genetic Expedition

The researchers hope the findings obtained will generate innovative therapeutic approaches. The study was published in the renowned journal Nature* on August 11.

Multiple sclerosis, one of the most frequent diseases of the nervous system in young people, is characterized by damage caused to the nerve fibers and the myelin layer that surrounds the nerve fibers in the brain and spinal cord. This can, inter alia, lead to impaired vision, gait disorders, numbness, and incontinence.

The study confirmed 23 known genetic variants and identified 29 other ones for the first time. It became evident that many of the genes involved regulate key functions of the immune system and the activation of certain semiochemicals. For MS the research results confirm overlapping genetic variants that can also be found in other autoimmune diseases like Crohn’s disease or type 1 diabetes. It was also possible to confirm the connection between vitamin D deficiency and MS due to two genetic variants.

Dr. Carmen Infante-Duarte, head of the “Experimental Neuroimmunology” research team at the Experimental and Clinical Research Center (ECRC), a joint institute run by Charité and the MDC in Berlin-Buch, points out the importance of the international cooperation on this study: “Multiple sclerosis is a result of interaction between numerous genes. Only in this broad-based international study comprised of 27,000 patients and control subjects was it possible to identify genetic changes that are clearly associated with the disease.”

Prof. Alastair Compston from the University of Cambridge and Prof. Peter Donnelly from the University of Oxford, who coordinated the work of more than 250 international researchers in total, highlight the specific and general importance of the study: “After lengthy debate the investigation was able to produce evidence of the fact that multiple sclerosis must primarily be regarded as an immunological disease. Only such large-scale genetic studies like ours are capable of presenting the underlying mechanisms of such complex diseases as MS.”

In the researchers’ opinion the new research results provide a basis for innovative therapeutic approaches, not only for the 400 patients at Charité who took part in the study but also for the 2.5 million patients worldwide.


Full bibliographic informationGenetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
The International Multiple Sclerosis Genetics Consortium & the Wellcome Trust Case Control Consortium. Nature. 2011 Aug 10;476(7359):214-9. doi: 10.1038/nature10251.

Share on:

MORE FROM Genetics and Birth Defects

Health news