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Gene mutations are pointing towards the root causes of the multiple sclerosis

Multiple sclerosis is a disease, which is characterized by the insulating covers of nerve cells in the brain and spinal cord. There is no cure and existing treatments can have tremendous side effects. Eventually MS leads to disability. Now an international team of scientists led by the University of British Columbia has made some steps towards a better understanding of the root causes of multiple sclerosis.

Multiple sclerosis occurs due to the the destruction of myelin sheaths of neurons. It leads to disability and slightly earlier death. Image credit: BruceBlaus via Wikimedia (CC BY-SA 4.0)

Symptoms of the MS include double vision, blindness in one eye, muscle weakness, trouble with sensation, or trouble with coordination. Typically, MS leads to disability, but life expectancy may be 5-10 years shorter or even the same as in healthy people. Scientists believe that MS is caused by the failure of the myelin-producing cells (it is a demyelinating disease) or destruction by the immune system.

People, whose family members had MS, are at a higher risk, which shows that this disease can be inherited at some level. However, only 13 % of MS patients are believed to have a genetic form of the disease. Now researchers found mutations in 12 genes believed to be largely responsible for the onset of MS in families with multiple members diagnosed with the disease.

Scientists sequenced all known genes in three or more MS patients from 34 families. In total, they looked into the genes of 132 patients. This allowed scientists to identify 12 genetic mutations that can lead to an overactive autoimmune system that attacks myelin. These genes, however, are still not the root cause of the disease, but scientists believe that they could be pointing at it.

Carles Vilariño-Güell, lead author of the study, said: “We have treatments that address the symptoms of MS, but not the causes. People with MS take drugs that reduce the attacks, but the disease still progresses. Now, with knowledge of these mutations, which suggest a common biological process that leads to increased inflammation in MS families, we can try to address the root causes”.

The ultimate goal would be personalized treatments for MS patients and preventative strategies for those at greater risk of developing the disease. Scientists estimate that those people, who have those 12 genetic mutations, are facing 85 % risk of developing MS in their lifetime. Improving the understanding of who is most likely to develop the disease is a good way to develop better preventive measures.

MS is the most common autoimmune disorder of the central nervous system. It is estimated that it affects around 2.5 million people worldwide. There is no cure and existing therapies do not work equally well with everyone. Hopefully, researches like this one are pointing us towards a better, more effective approach.

 

Source: University of British Columbia


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