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Researchers Identify Specific Gene Linked to Early Onset of MS

Update Date: Jun 25, 2013 04:38 PM EDT

Multiple sclerosis, MS, is a chronic disease that affects the central nervous system. Due to inflammation, the brain's myelin sheathing, which protects nerve fibers, and the spine end up being damaged. The degree of the damage results in symptoms ranging from cognitive decline to motor issues. Although people can live with MS comfortably, there is a small group who suffer from a more aggressive kind of MS that manifests earlier and could disable the person. Now, according to a new study, researchers report that they have identified the gene responsible for this type of MS.

The research team, headed by senior author, Sergio Baranzini, Ph.D., an associate professor of neurology from the University of California San Francisco, studied MS in animal models. Along with researchers Scott Zamvil MD and Jorge Oksenberg, Ph.D. from the same university, they used data from one of their previous studies before discovering the gene responsible for early onset MS. In their older study, the researcher had found that early stage MS, also called clinically isolated syndrome, was characterized by lower levels of Tob1, which is a gene found in the CD4+ T cell, which is a type of immune cell. People with early onset MS also exhibit more symptoms of the illness.

Based from that discovery, the researchers created mice with a MS-related illness and genetically modified them without the Tob1 gene. They found that these mice in comparison to mice with the Tob1gene developed MS a lot faster. On top of that, their version of MS was also more aggressive, suggesting that the absence of this gene leads to a more fatal version of the disease. This discovery of the gene and its role in MS could help doctors screen patients who might be high risk for a more aggressive form of MS.

"This may become an example of personalized medicine. When the patient comes to the clinic, we will be able to tailor the therapy based on what the tests tell us. We're now laying the groundwork for this to happen," Baranzini said.

The findings were published in the Journal of Experimental Medicine

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