2023-07-08 02:00:00
An international group of researchers has discovered the first genetic variant related to the progression of multiple sclerosis.
Led by scientists from the University of California, San Francisco, and the University of Cambridge, UK, researchers analyzed data from nearly 22,000 multiple sclerosis (MS) patients in a genome-wide association study. . With this, it seeks to identify genomic variants statistically associated with a risk of disease or with a certain trait. Their results were published in the journal Nature.
An inherited genetic variant
In those cases, in which both parents inherited the variant to the patient, the patient needed a cane or other walking aid four years earlier, compared to those patients who did not inherit MS from their parents, according to the study.
The discovered genetic variant is located between two genes, one of which participates in the repair of damaged cells and the other in the control of viral infections. Both genes are active in the brain and spinal cord.
According to Stephen Sawcer, a neurologist at the University of Cambridge and co-author of the study, this shows that the extent to which MS affects a person depends strongly on how well the brain copes with attacks on the immune system.
What is multiple sclerosis?
Multiple sclerosis is a disease in which the immune system mistakenly attacks the brain and spinal cord. The attacks damage myelin, a substance that covers nerve fibers, interfering with the transmission of nerve impulses.
The broad spectrum of symptoms includes numbness, mood swings, memory problems, pain, tiredness, visual disturbances, and paralysis.
How strongly the disease affects a patient and how often flare-ups occur varies greatly.
“Some patients have no symptoms, sometimes the disease is only discovered after death and they were never known to have multiple sclerosis,” says Sawcer. Other patients, however, have very severe symptoms, she adds.
The importance of genetic variant
Until now, all the genetic variants discovered related to MS have helped determine a person’s risk of developing the disease. However, the most recent variant is the first to give us an idea of where a patient is on the spectrum of disease severity.
This is important when developing therapies. Currently, there are several drugs to treat the symptoms of MS, but none exist to slow the progression of the disease, so the health of some patients worsens faster than others.
A revolutionary therapy?
Sawcer explains that many more genetic variants still need to be determined before it is possible to make individual predictions for each patient.
However, he continues, now that it is known that there is a specific variant associated with the progression of MS, and that it affects active genes in the brain, pharmaceutical companies will probably be much more willing to invest money in the development of a drug directed against it. the progression of the disease.
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