Testing to Determine Who Will Develop MS

Why would anyone who has the symptoms of MS want to know for sure they are getting better or worse? If you're one of the few whose symptoms are likely to recover and not suffer progressive disability, of course, you'd like to know. And even if you are an MS patient who is destined for progressive disease, knowing the form of MS you have several years earlier allows you to do more planning, and puts you higher on the list for innovative treatments as they become available.

Immunologist Dr. Nancy Monson, an associate professor in the Department of Neurology and Neurotherapeutics at the University of Texas Southwestern Medical Center in Dallas has developed a test that looks at unique gene mutations in a subset of white blood cells in spinal fluid. Known as B cells, these immune-active cells play a significant role in the development of MS.

MS Is a Condition Caused by an Overactive Immune System

The term multiple sclerosis refers to scars, or sclera, that develop in the brain and central nervous system. More specifically, the lesions that develop in multiple sclerosis occur in the white matter, which conducts electrical impulses between nerves in the gray matter. More specifically, multiple sclerosis involves destruction a subset of white matter cells known as the oligodendrocytes, whose job is making the fatty layers that insulate and protect cells in the white matter.

In MS, one of the things that goes wrong (there are other factors in the disease than just this) is that the immune system produces defective B cells. These B cells normally make antibodies, which are Y-shaped proteins that patrol the body looking for infections. When an antibody encounters the infectious microorganism it is created to destroy, it "sticks" to the germ and destroys it. In MS, something has gone wrong with the production of B cells so that some of them produce antibodies that "stick" to brain cells.

Genetic Testing Reveals Risk of MS

Before the development of this test, the way researchers identified who was likely to develop relapsing-remitting MS and who might have "clinically isolated" symptoms was to perform a very tedious procedure that separated out single antibodies from the thousands of antibodies in a sample of spinal fluid. It simply wasn't practical to perform the procedure in a clinic.

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However, Dr. Monson and her colleagues learned that the "sticky" antibodies associated with MS track to 38 possible mutations in the genes that code the activity of B cells. Instead of looking for a needle in a haystack to find harmful antibodies. Monson has developed an MS PreCISe test that sequences the entire genome to look for the problem genes, with 86 to 92 percent accuracy for predicting who will develop relapsing-remitting multiple sclerosis and who will remain symptom-free.

Implications for Future Treatment

Dr. Monson doesn't suggest that the MS PreCISe test will replace the need for MRI for diagnosing MS. However, she does believe that it will help doctors make the right decisions in treatment. Many of the medications used to treat MS "knock out" the immune system. It may be possible to determine which MS patients don't need them. And in the future it may be possible simply to deactivate the problem B cells without deactivating B cells that fight actual disease conditions.

MS PreCISe may be more generally available in 2017. In the meantime, if you suffer symptoms of MS, ask your doctor about the most appropriate treatment with the fewest side effects on your immune system.