Genetic Disorders: Multiple Sclerosis

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Multiple sclerosis (MS) is a genetic disorder that affects the nervous system, brain, and spinal cord. There are four types of disease courses linked to the genetic disorder MS. Relapsing-remitting multiple sclerosis (RRMS), primary-progressive multiple sclerosis (PPMS), secondary-progressive multiple sclerosis (SPMS), and progressive-relapsing multiple sclerosis (PRMS) are the four disease courses of MS. MS is an autoimmune disease, where the body's own defense mechanism attacks itself. In MS, the immune system attacks the myelin sheath, which is a material that protects the nerve cells, and causes it to slow down or block signals between the body and brain. These blockages may lead to to the symptoms of MS, which are usually problems with…show more content…
MS is found along the regions 1p36, 5p13, 10p15, 12q13.3 - 12q14.1, 19q13.3, and usually 6p21.3 in the corresponding chromosomes (McKusick). Most cases of MS are linked to chromosome 6, which contains the HLA gene family. HLA genes provide instructions for creating a group of proteins called the HLA (human leukocyte antigen) complex. The HLA complex helps the immune system tell the body’s own proteins apart from foreign proteins made by substances such as bacteria and viruses. An error with the HLA complex causes the immune system to attack itself. This would damage the nerve cells, and therefore leading to multiple sclerosis (Genetics Home Reference). However, the role the gene plays in the development of the condition is not ultimately clear. Since MS in most families does not follow simple inheritance patterns (autosomal dominant, autosomal recessive, X-linked), it is likely that it is largely determined by interacting genes. Smoking and being exposed to viral infections are examples of other factors that are believed to lead to MS. MS is a disorder with a complicated and extensive system of inheritance (Duke Molecular Physiology…show more content…
Some people are affected with RRMS, and experience relapses (suffering from deterioration after a time of improvement) when their symptoms of MS get worse. Some people with RRMS experience a full recovery from their relapse, and return to just having the usual symptoms of MS, but others only have a partial recovery from the relapse, and worse, some do not recover at all. If the person does recover from the relapse, it usually takes weeks to months, without the symptoms of MS letting up. Many people have this when they are first diagnosed with MS. About 15% of people diagnosed with MS have PPMS, which is another one of the four disease courses of MS. In PPMS, symptoms of MS gradually increase without any obvious relapses. This is the most common type of MS that people over 40 are diagnosed with. SPMS is another type of MS, which usually follows RRMS (most people who are diagnosed with SPMS originally started with RRMS). Over time, the symptoms stop having relapses and just begin to get increasingly worse. This change may happen right after the symptoms of MS appear, or several years later. The last type of MS is PRMS, the least common of the four. A person diagnosed with PRMS will experience gradual worsening of the symptoms, and will also experience relapses. They may recover from their relapses, and they may not. This type of MS may first look like PPMS, but it is a complete different disease
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