Scleroderma Can Be Linked to Genetics

November 12, 2012

Scleroderma Can Be Linked to Genetics

A genetic link to the systemic form of scleroderma has been found by scientists from The University of Texas Health Centre who believe that it could be possible to develop a cure after gaining a comprehensive understanding of the genetic nature of the disease. Approximately 100,000 people in the United States alone are affected by Systemic scleroderma. It is an autoimmune disease, which is caused when the body’s immune system attacks it’s own cells and can be severely disabling, with each patient showing different symptoms ranging from mild to life threatening. Scientists have reported that they have found a new area of the genome, which can affect and increase the susceptibility of each individual to systemic scleroderma. Thanks to this finding, the scientists involved believe they have made a step closer to discovering the genes responsible for the disease. The next step will then will include developing a system to block the activity of these genes. A genetic research technique was used to produce the results of this study by allowing researchers of particular diseases, in this case systemic scleroderma, to identify genetic differences. The genetics of 2,296 people who have systemic scleroderma was compared with the genetics of 5,171 people who do not have the disease and differences were found in a specific region of the genome. This region is known to be associated with immunity and is identified as CD247. After a second study involving a similar number of people from the United States and parts of Europe, the results were confirmed. Other areas of the genome that had previously been associated with the disease, namely MHC, IRF5 and STAT4 have also confirmed to be linked to systemic scleroderma.

Following these exciting new results, scientists plan to conduct a further study, which will allow them to study the findings more thoroughly. Patients with scleroderma from the United States and Canada will be used in this next study. Many scientists and medical professionals are excited to hear the news of these results because once you know the cause of a disease; you can find a cure for it.

One of the many symptoms of the disease is hard skin, which is where it gets its name. In the Greek language “sclero” means hard and “derma” means skin. There are many other symptoms of scleroderma, however, and they can vary greatly form patient to patient. The seriousness of each individual’s conditions depends on the area of the body and how badly they are affected.

Because, as of yet the cause of scleroderma is not known means that medical experts have to resort to treating its symptoms rather than the disease itself. There is no medication being made or prescribed specifically for the treatment of this disease, instead medicine used to treat other problems is used to relieve the symptoms. This can also be complicated as scleroderma affects each individual differently with one of the only symptoms common in most patients being discoloration of the fingers, known as Raynaud’s disease.

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