Representative image. Photo: National MS Society, Delaware/Flickr CC BY NC ND 2.0
An international research team has discovered the first genetic mutation associated with cancer progression. multiple sclerosis (MS).
The group, led by scientists from the University of California, San Francisco (UCSF) and the University of Cambridge, UK, analyzed data from about 22,000 MS patients. genome– Overall relevant research. Carefully associate genetic variation with specific traits using statistics. their result is It was published in the magazine Nature on wednesday.
In their study, the researchers noted that those who inherited the mutation from their parents needed a cane nearly four years earlier, on average, than those with MS who did not inherit the mutation from their mother or father.
The gene mutation in question is located between two genes, one involved in repairing damaged cells and the other in controlling viral infection. Both of these genes are active in the body. brain and spinal cord.
“This is compelling evidence that the success or failure of MS treatment is strongly influenced by how well the brain copes with the immune system attacks that occur as part of MS,” he said. Stephen SaucerProfessor of Neurology at the University of Cambridge, Nature.
Saucer wrote his doctoral dissertation on multiple sclerosis in the mid-1990s and has studied the disease extensively since then.Identification of genetic variants described in Nature This study is a major advance in MS research.
“I’ve been working on this for decades, and this is the most important discovery I’ve ever made,” Saucer said. DW.
What is multiple sclerosis?
To understand why the discovery of this genetic variation is so exceptional and different from all previous findings in MS research, we need to take a closer look at multiple sclerosis. This is an autoimmune disease in which the immune system mistakenly attacks the brain and spinal cord.
These attacks damage myelin, the fatty substance that surrounds and insulates nerve fibers, interfering with the nervous system’s ability to transmit signals.
These relapses are called seizures and can cause a variety of symptoms including numbness, tingling, mood changes, memory loss, pain, fatigue, blindness and paralysis.
How severely affected MS patients are and how often relapses occur varies greatly.
“Some patients have no symptoms, but we didn’t even know they had MS,” said Saucer, a doctor who also treats MS patients. “Sometimes they have very mild symptoms that bother them for a while and then they don’t come back for a long time. I recently had a woman I first met 15 years ago and now she came back with a new episode and she was completely in between.
Why is this genetic variation important for MS research?
All of the MS-associated genetic variants discovered so far have helped determine the risk of developing MS. This recent study is the first to give an idea of where patients fall within a spectrum of disease severity. It is important in the development of therapeutics.
So far, there are several drugs on the market to treat recurrent symptoms of MS, but none to treat the general progression of the disease. This means that some patients get sicker faster than others.
“All the drugs developed to control relapse are immunomodulatory, consistent with the genetics of more than 200 variants associated with MS risk.” Sergio BaranginiHe, a professor of neurology at UCSF and co-senior author of the study, wrote in an email DW. “The genetics of disease severity suggest that the central nervous system should be the target for this new class of therapies.”
New MS treatments set to be ‘fundamentally transformative’
However, the fact that a group of patients who inherited two copies of the newly discovered genetic mutation required walking aids for a shorter period of time does not mean that the mutation can be used to make individual predictions for individual patients. More genetic variants need to be identified before this is possible, says Saucer, so further genome-wide association studies are needed.
Still, Saucer says that now that he can pinpoint specific mutations associated with the progression of MS, and that they involve genes that are normally active in the brain, it’s much more likely that drug companies will start investing money in developing drugs to target progression.
“The biggest unmet need for people with MS is drugs, treatments for the progressive aspects of the disease,” Saucer said. “And today, that is set to change radically.”
