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Article: Are you getting phone calls about the discovery of new genes linked with MS?
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Are you getting phone calls about the discovery of new genes linked with MS?

(Research identifies new genes linked with MSHeritable risk factors for multiple sclerosis identified)

We asked Dr. Alex Rae-Grant, CMSC website's Project Leader for Neurology, to share his expertise and views about the implications of this new development for patients and healthcare professionals. Here is his reply:

Who let the dogs out?
By Alex Rae-Grant, MD
Neurological Institute
Cleveland, OH

For the past 40 years various researchers have doggedly tried to sniff out the genetics of diseases such as rheumatoid arthritis, thyroid disease, diabetes mellitus, and, yes, multiple sclerosis. Its been a long and complex trail to follow, yet one with discoveries along the way. We know much more now about the structure and function of the human genome than we did in the past, and every year brings new techniques to bear in these studies. Unfortunately, what we all want is a simple key to unlock the mystery that is MS. This still eludes the genetic hounds of science.

The most recent publication is from the international multiple sclerosis genetics consortium that includes many well-known and able researchers and institutions. Using new techniques to go over the entire genetic material of humans, they were able to show two new areas of the genetic material that had an association with MS. These two areas, one within the interleukin-2 receptor alpha gene and the other within the interleukin-7 receptor alpha gene, were associated with MS in multiple tested populations. They also found that there were multiple sites in the HLA-DRA locus very strongly associated with MS.

What does this mean in simple English? Well, we have known that MS is associated with the major histocompatability locus, an area important in the immune system being able to recognize "what is you and what is not you". Despite the fact we have known this for many years this has not lead to a specific cure or a specific treatment for MS. This knowledge has not yet solved the puzzle of why MS occurs 'in this person at this time'. Yet these two new sites make sense to researchers in MS. The site in the IL2RA site is already known to be important in other autoimmune diseases. These are disease in which the immune system seems to attack tissues of the body. This observation is important in that it more closely ties MS to these other diseases. The interleukin-7 site is important for stability (homeostasis) of the memory T-cell pool, another important part of the immune system's activities.

So what's been chased down here? This study among others means that we are getting closer to understanding the major genetic sites involved in the expression of MS. Do we know that these cause MS? No. Do we know how they allow MS? No, not yet. Do we know what triggers MS? No. Do they tell us new medications to use in MS? Well, perhaps they will give us clues to new types of medications to use to alter immune responses.

Some of scientific research does not have an immediate therapeutic benefit. A lot of basic science is just technically complex, well designed hunting. But this paper and others are beginning for perhaps the first time to uncover just what is going on genetically in the complex disease we call MS. And that's got to be worth howling about.

Related Materials:
  1. Research identifies new genes linked with MS
  2. Heritable risk factors for multiple sclerosis identified
  3. Genetics and Epidemiology of MS – from the 2007 CMSC Annual Meeting
    Stephen Hauser, MD
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