Multiple sclerosis (MS) is a disease in which the immune system degrades the myelin sheath of nerve cells in the brain and spinal cord. The degredation of myelin in the brain and spinal cord hinders the brain's ability to communicate effectively with the body, this causes a wide range of symptoms. Symptoms of MS can be physical mental, and psychiatric. Symptoms occur either in relapsing forms, or progressive forms. In relapsing forms of MS symptoms appear as isolated incidents. In progressive forms of the disease the symptom increases over time.
Currently, the details on how MS works are still unknown. However, the prevailing thoughts are that the disease is either caused by the immune system degrading the myelin sheath, or that there is a defect in the myelin producing cells. The cause of the disease is also unknown, but it is thought that genes make affected individuals respond more negatively to certian environmental factors. MS is found twice as commonly in women than it is in men. Life expectancy for those affected by MS are, on average 5-10 years shorter than unaffected individuals.
Jean-Martin Charcot is credited with being the first person to describe the disease in 1868. The name of the disease comes from the legions or scars on the white matter of the brain and spinal cord, the legions are called sclerae.
The SNP Edit
The gene of interest codes for a protein called IL7RA. The IL7RA protein plays an important role in the signaling pathway of two growth factors. The two growth factors are IL-7 and TSLP. These growth factors determine how immune cells are specialized, and located.
The protein IL7RA is found in the membrane of immune cells, and also released freely into the blood. The concentration of both these forms affects signaling to immune cells, and thus how the immune system conducts itself. The C form of the SNP for this gene increases the amount of free floating IL7RA protein.
This is significant because it is noted that in MS patients IL-7 processes are shown to have been altered. However, it is not known how this change leads to the development of MS.
Lessons from Professor John Burke's Genotype Edit
The results from 23andme.com for professor Burke's Genotype states that there is a .17 percent chance that he will develop MS, and half as likely as others with a similar genetic history. This information is delivered with a high degree of confidence. One thing to take away from that information is that MS is one less disease that John Burke has to worry about developing.
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"Multiple Sclerosis." Definition. Mayo Clinic, 1998. Web. 14 Sept. 2014. <http://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/basics/definition/con-20026689>
"23andMe - Genetic Testing for Ancestry." Log In. 23andme.com, n.d. Web. 14 Sept. 2014. <https://www.23andme.com/you/journal/multiplesclerosis/overview/>
"Cause of Multiple Sclerosis (MS)." Multiple Sclerosis(MS) Of Symptoms Are Causes. Neurology Muscular Dystrophy and Neuropathy Specialist, n.d. Web. 17 Sept. 2014. <http://www.beverlyhillsneurology.com/multiplesclerosis.htm>.