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A genetic variant would be responsible for a faster progression of multiple sclerosis has been discovered. A discovery that explains the progress of the disease in some patients and opens the way to other therapies.
Researchers at Yale University (United States) have identified a genetic mutation involved in the progression of multiple sclerosis, an autoimmune disease that leads to irreversible handicaps in the more or less long term.
A very different evolution from one patient to another
The causes of the onset of MS have not yet been clearly identified. Several studies have shown that the Epstein-Barr virus significantly increases the risk of developing MS. However, it is unclear how to explain differences in disease progression between patients. Indeed, some patients may find themselves in a wheelchair a few years after diagnosis while others continue to walk and run normally 10 or even 15 years after diagnosis.
First genetic variant associated with faster disease progression
A large study of more than 22,000 people has identified the first genetic variant associated with faster disease progression. This variant is found between two genes that have no known relationship with multiple sclerosis: DYSF, which plays a role in cell repair, and ZNF638, which allows better control of viral infections.
This discovery was possible thanks to the work of a consortium of researchers led by Professor Baranzini. The researchers relied on the medical records of 12,000 people with multiple sclerosis around the world. They sequenced and compared their DNAs and then sifted through more than 7 million genetic variants. They found that a genetic variant was associated with disease progression.
The study claims that people who inherited two copies of this variant from their parents saw the disease develop more rapidly than others. They needed a cane to walk about 4 years before the patients who had no or only one copy of the variant.
Developing treatments that target the central nervous system
To confirm their results, Dr. Baranzini and his team carried out the same analyzes (sequencing and DNA comparison) on another group of 10,000 MS patients. They came to the same conclusions: patients who had two copies of the identified variant saw the disease progress more quickly.
This discovery could pave the way for new treatments targeting the central nervous system to avoid developing a severe form of the disease. Today, MS treatments aim to modulate immunity to slow the progression of the disease.
MS affects 120,000 people in France. It is usually diagnosed between the ages of 25 and 35.