Genetic mutation leads to MS.
Scientists are trying to understand why Canada has maybe the most sclerosis cases in the world. Recent research has shown that genetic mutation might be the cause.
MS Society of Canada funded a project during the last 20 years by gathering genetic samples from 4,400 Canadians suffering from neurological disease, plus 8,600 of their blood relatives. After analyzing the samples, researchers learned that genetics is related to this disease.
In other words, a rare mutation was discovered by scientists from the University of British Colombia. This mutation might lead to a highly dangerous form of MS.
According to Dr. Carles Vilarino-Guell, lead author of the study, thanks to the fact that they identified the genetic mutation, it is now possible to observe at animals the biological processes that lead to this disease in people. Plus, these animal models will play a crucial role in the development of treatment that will be focused on the cause of disease and not on the symptoms.
MS develops when myelin, the material that enables communication within the brain and nervous system and insulates neurons, is attacked by the immune system of the body. If myelin is damaged, the brain loses the communication with the body, causing cognitive impairments, difficulty with balance, muscle weakness and vision problems.
Dr. A. Dessa Sadovnick, a UBC professor of neurology and medical genetics, suspected over twenty years ago that the primary cause of this destructive neurological disease might be associated with a genetic problem.
Plus, Sadovnick mentioned that there was always more than one person suffering from MS after analyzing family history. Even if many did not believe her, she managed to gain funding from the Multiple Sclerosis Scientific Research Foundation and the MS Society of Canada in 1993 and started to collect DNA samples together with clinical, and demographic information from every Canada established MS clinic.
Scientists learned later from the database that genes were the answer in most of the cases. However, the genes were not the primary cause of the disease. Still, after a more thorough research, Vilarino-Guell and his colleagues established a critical mutation which was the main cause of dangerous symptoms.
However, this genetic mutation occurs only once in 1,000 cases of MS, and it seems to cause a very fast progression of the disease. Scientists will continue their work to find the best way to tackle this issue.
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