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Researchers from Western Australia have collaborated on an international investigation that has discovered the first genetic marker for multiple sclerosis (MS).
The leading search results, which were published in naturea British science weekly, identifies the genetic variation that exacerbates the condition and represents the first important steps towards understanding and ultimately treating this component of MS.
This finding raises the possibility of long-term treatment for those with this chronic central nervous system condition.
What is multiple sclerosis?
Multiple sclerosis is a long-term neurological condition that damages the brain, making it difficult for people with multiple sclerosis to move, remember things, and use other basic functions. It is not known why some individuals with this disorder can receive treatment and lead reasonably normal lives while others see rapid disease progression.
There is currently no known cure for MS. Each person is affected by the disease in a unique way, both in terms of when symptoms first appear and how severe they are.
Causes of multiple sclerosis
Multiple sclerosis (MS) is still largely unknown in terms of its exact causes. However, the development of the condition is believed to be influenced by both genetic and environmental factors, according to the researchers.
The following are some of the factors that are believed to contribute to the onset of MS:
1) an autoimmune response
MS is an autoimmune disease in which the immune system inadvertently targets the protective myelin covering of nerve fibers in the central nervous system. An abnormal immune reaction against myelin is thought to be caused by a trigger, such as an infection or environmental condition.
2) gender and age
Age and sex statistics show that women are more likely to develop MS than men, with the peak age of onset being between the ages of 20 and 40. There may be a difference in susceptibility to the disease between the sexes due to hormonal and reproductive variables.
3) a defect in the immune system
A dysfunctional immune response is believed to be a major factor in the onset of multiple sclerosis (MS). The immune system’s T cells, which normally help defend against infection, wrongly attack myelin in MS. Research is ongoing to determine the exact causes and processes of this dysregulation.
Genetic association of multiple sclerosis
In a study of 22,000 MS patients, the first genetic variation linked to faster progression of the disease was found – which can deprive patients of their movement and independence.
The International Consortium for the Genetics of Multiple Sclerosis (IMSGC) and the MultiMS Consortium, two important consortia for multiple sclerosis research, have teamed up to investigate the mystery surrounding the severity of MS. This has allowed MS researchers from around the world to join forces and gather the resources needed to begin to identify the genetic elements that influence MS outcomes.
Previous research has shown that a weakened immune system plays a significant role in susceptibility or risk of developing MS, and that some of this impairment can be addressed to delay the onset of the disease. However, UCSF Professor Sergio Baranzini, senior author of the study, said:
“These risk factors do not explain why, ten years after diagnosis, some MS patients are in wheelchairs while others continue to run marathons.”
The study’s other co-lead author, Professor Stephen Susser of the University of Cambridge and University Hospitals Cambridge NHS Foundation Trust, commented on the findings,
“It is hoped that understanding how the variant influences its effects on MS severity will pave the way for a new generation of therapies that are able to prevent the progression of the disease.”
The researchers combed through more than seven million genetic variants before identifying one associated with faster disease progression. The mutation is located between the genes DYSF and ZNF638, which had no known association with MS. The first relates to cell repair and the second helps manage viral infections. Given the variant’s proximity to these genes, it is possible that they may contribute to the development of the disease.
The researchers looked at the genetics of nearly 10,000 other MS patients to confirm their findings. Those with two copies of the contrast were affected more quickly.
This research is a breakthrough in the treatment of MS that will help improve the lives of patients who suffer from it.
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