Global study identifies new genetic variants in multiple sclerosis
An international team of scientists led by Charit - Universittsmedizin Berlin and Max Delbrck Center for Molecular Medicine (MDC) in Germany has found new genetic variants that contribute to the development of multiple sclerosis, an immunological disease. The study, presented in the journal Nature, was funded in part by the NEUROPROMISE ('Neuroprotective strategies for multiple sclerosis') project which clinched a EUR 11.4 million grant under the 'Life sciences, genomics and biotechnology for health' Thematic area of the EU's Sixth Framework Programme (FP6). The researchers believe the results could lead to the development of new treatment methods. Overall, 29 genetic variants emerged; this number joins the other 23 that are already listed. The team, consisting of 24 research groups from 15 nations, says multiple sclerosis is characterised by damage caused to the nerve fibres and the myelin layer that surrounds the nerve fibres in both the brain and spinal cord. When this happens, patients can complain of numbness, incontinence, impaired vision and gait disorders. According to the researchers, it was clear that many of the genes identified play a key role in regulating the functions of the immune system as well as in the activation of several semiochemicals. With respect to multiple sclerosis, the findings confirm overlapping genetic variants that are present in other autoimmune diseases like type 1 diabetes and Crohn's disease. The team also verified the link between multiple sclerosis and vitamin D deficiency to two genetic variants. Commenting on the significance of the international collaboration of this study, co-author Dr Carmen Infante-Duarte, who leads the 'Experimental Neuroimmunology' team at the Experimental and Clinical Research Center (ECRC), a joint institute managed by Charit and the MDC, says: '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.' For their part, co-authors Professor Alastair Compston of the University of Cambridge and Professor Peter Donnelly of the University of Oxford in the United Kingdom also emphasise how important a role the study and its findings will have: '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 multiple sclerosis.' According to the researchers, these findings will help get pioneering therapeutic approaches off the ground, both for the patients that took part in the study and for those suffering from multiple sclerosis around the globe. Current estimates from the National Multiple Sclerosis Society in the United States show that more than 2.1 million people suffer from this disease. Experts say that while it is neither contagious nor directly inherited, factors have been identified in the distribution of multiple sclerosis worldwide that could potentially help shed light on what triggers this disorder, namely: genetics, gender, age, geography and ethnic background.For more information, please visit: Nature: http://www.nature.com/(opens in new window) Charit - Universittsmedizin Berlin: http://www.charite.de/(opens in new window) Max Delbrck Center for Molecular Medicine (MDC): http://www.mdc-berlin.de/en/(opens in new window)
Countries
Germany, United Kingdom