Genetic Studies

New Directions in MS Research: New Therapeutic Approaches

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As discussed in this article in previous years, there has been a growing body of evidence for the genetic component in MS. The studies on biomarkers have arisen as the result of this work, and a number of genes that are linked to the development of MS have been identified.

This field of research saw a major break-through in August 2011, when the journal Nature published the results of the largest MS genetics study ever undertaken. A global collaboration of scientists identified 29 new genetic variants associated with MS, and confirmed 23 others that had been previously associated with the disease. The study confirmed that the immune system plays a major role in the development of MS: most of these genes are related to immune function, and more than one-third of them have previously been confirmed to be associated with other autoimmune diseases, such as Crohn’s disease and type 1 diabetes.

The study involved nearly 10,000 people with MS and more than 17,000 controls without MS, in 15 countries. The research was carried out by approximately 250 investigators. The results are now to be confirmed and expanded in a second, large-scale study.

The team found that a large number of these genes are related to T-cell function; they were mainly associated with T-cell activation and proliferation. This was particularly important because these are the cells believed to be the major mediators of the early immune attack on the brain and spinal cord in MS. Two of the genes are linked to Vitamin D, and low Vitamin D levels have already been implicated as a risk factor for developing MS. As noted earlier, more than one-third of the genes are known to be associated with other autoimmune diseases such as Crohn’s disease and type 1 diabetes; MS is believed to be an autoimmune disease as well.

These and other genetic studies do not as yet significantly improve our ability to provide genetic counseling to individuals concerned about their risk of developing MS. However, they should help researchers to better define the biological pathways that lead to the development of MS. It is also hoped that they will enhance our ability to design better treatments for early MS.

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