Researchers from Western Australia collaborated on an international investigation that discovered the first genetic indicator of multiple sclerosis (MS) severity.
The ground-breaking research results, which were published in Nature, a British weekly scientific journal, identify a genetic variation that worsens the condition and represent the first significant strides towards comprehending and ultimately treating this element of MS.
This finding brings up the possibility of long-term treatments for those suffering from 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 MS to move, remember things, and use other basic functions. It is unknown why some individuals with the disorder can receive therapy and have reasonably normal lives while others see rapid disease development.
MS presently has no known cure. Each person is affected by the illness in a unique way, both in terms of when symptoms initially appear and how severe they are.
Multiple Sclerosis Causes
Multiple sclerosis (MS) is still largely unknown in terms of its precise causes. The development of the condition, however, is thought to be influenced by both genetic and environmental factors, according to researchers.
The following are some factors that are believed to contribute to the onset of MS:
1) Autoimmune response
MS is regarded as an autoimmune disease in which the immune system inadvertently targets the myelin protective covering of nerve fibers in the CNS. An aberrant immune reaction against the myelin is thought to be caused by a trigger, such as an infection or environmental condition.
2) Gender and age
Age and gender statistics show that women are more likely than men to get MS, with the peak onset age falling between 20 and 40. There may be a difference in susceptibility to the disease between the sexes due to hormonal and reproductive variables.
3) Immune system dysregulation
A dysfunctional immune response is thought to be a major factor in the emergence of multiple sclerosis (MS). T-cells of the immune system, which typically aid in infection defense, wrongly assault the myelin in MS. Research is still being done to determine the precise causes and processes of this dysregulation.
Genetic Link for Multiple Sclerosis
In a study including 22,000 MS patients, the first genetic variation linked to a faster disease progression—which can deprive patients of their mobility and independence—was found.
The International Multiple Sclerosis Genetics Consortium (IMSGC) and The MultipleMS Consortium, two significant MS research consortia, collaborated to investigate the riddle surrounding MS severity. This made it possible for MS researchers from around the world to combine their efforts and gather the resources required to start identifying the genetic elements influencing MS outcomes.
Previous research has demonstrated that immune system dysfunction plays a significant role in MS susceptibility or risk and that some of this dysfunction can be addressed to delay the onset of the illness. However, Professor Sergio Baranzini at UCSF, co-senior author of the study said:
“These risk factors don’t explain why, ten years after diagnosis, some MS patients are in wheelchairs while others continue to run marathons.”
The study’s other co-senior author, Professor Stephen Sawcer of the University of Cambridge and Cambridge University Hospitals NHS Foundation Trust commented on the findings,
“Understanding how the variant exerts its effects on MS severity will hopefully pave the way to a new generation of treatments that are able to prevent disease progression.”
The researchers combed through more than seven million genetic variants before identifying one that was linked to a quicker illness development. The mutation is located between the genes DYSF and ZNF638, which had no known association with MS. The first is involved in cell repair and the second aids in the management of viral infections. Due to the variant’s proximity to these genes, it is possible that they contribute to the development of the disease.
The researchers looked into the genetics of almost 10,000 more MS patients to corroborate their results. Those that had two copies of the variation were affected more quickly.
This research is a breakthrough in the treatment of multiple sclerosis which will help in improving the lives of patients suffering.
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