The discovery of the gene paves the way for the development of treatments that prevent the increasing functional impairment that occurs as the disease progresses.
Researchers at Karolinska Institutet, among others, report that they have identified the first MS genetic variant that can be linked to disease severity.
Multiple sclerosis (MS) is a neurological disease that usually begins between the ages of 20 and 40 and is more common in women.
In MS, the immune system mistakenly attacks the brain and spinal cord, leading to relapsing symptoms and a gradual increase in loss of function, known as progression. Although effective treatments for relapse have been developed, current therapies cannot prevent disease progression in a good enough way.
Previous studies have identified genetic factors that increase the risk of developing MS. They lead to a somewhat treatable imbalance in the immune system and slow down the disease. But these risk factors do not explain the wide variation in disease severity.
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New genetic mapping, led by researchers from the University of California in the USA, Britain’s University of Cambridge, and Sweden’s Karolinska Institutet, found a genetic variant that increases the severity of the disease. This type of gene speeds up the time to needing assistance with walking by about four years.
– This is a breakthrough because the discovery represents the first real advance in understanding long-term disability in MS, in which patients gradually lose mobility and independence. This gives us an opportunity to develop new therapies to control the progression of the disease, which many patients with multiple sclerosis need, Ingrid Kokum, professor at the Department of Clinical Neuroscience at Karolinska Institutet, says in a press release. Kocom led the European part of the study.
A genetic variant with no prior association with MS is usually active in the central nervous system and involved in repairing damaged cells and controlling viral infections.
– The genetic variant that causes more severe MS appears to affect mechanisms in the brain and spinal cord, unlike genes that increase the risk of MS, in which the immune system is central. This suggests that today’s standard anti-inflammatory therapies may need to be supplemented with drugs that protect the nervous system, says researcher Pernella Stride, part of Ingrid Kocum’s group at the Karolinska Institutet and co-author of the article.
The researchers also found that higher education is associated with slower disease progression, supporting the hypothesis that cognitive reserves that increase brain plasticity play a major role in MS severity.
The study is the result of a major international collaboration between more than 70 institutions from around the world. In total, more than 22,000 people with multiple sclerosis took part in the study.
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