A study has identified a genetic mutation that is responsible for an accelerated progression of multiple sclerosis (MS).
- Studies of more than 22,000 people with MS have for the first time identified a genetic mutation associated with faster disease progression.
- The variations were observed in the DYSF and ZNF638 genes, two genes with no prior link to MS.
- This discovery could help develop new treatments aimed at slowing the progression of MS and improving the quality of life of patients.
Multiple sclerosis (SEP) is an autoimmune disease that affects the central nervous system. Currently affecting nearly 110,000 people in France, it is progressing to cause irreversible disabilities. The underlying mechanisms of this complex pathology remain poorly understood. The discovery of a genetic mutation linked to faster progression of MS offers new hope to patients and healthcare professionals.
MS: a mutation in two genes accelerates the disease
A study, conducted by researchers from several North American universities and published in the journal Nature on June 28, 2023, analyzed the files of more than 12,000 people with MS. The results made it possible to identify a genetic mutation located on two genes without prior link with the degenerative pathology, DYSF And ZNF638which leads to more rapid disease progression in carriers.
“Inheriting this genetic variant from both parents accelerates the time it takes to need a walking aid by almost four years.“, explained Sergio Baranzinico-author of the article, in a press release sent by the University of Yale.
“These genes are normally active in the brain and spinal cord, rather than in the immune system”added Adil Harroudassistant professor of neurology at the Montreal Neurological Institute and lead author of the work.
Multiple sclerosis: towards new therapies?
In order to confirm the results obtained, the scientists studied the genetics of nearly 10,000 other patients with multiple sclerosis. The conclusions were the same, thus reinforcing the importance of this genetic mutation in the progression of the disease. This major breakthrough will allow further research on MS and the development of new treatments aimed at slowing the progression of the disease and improving the quality of life of patients.
“Our findings suggest that nervous system resilience and repair determine the course of MS progression and that we should focus on these parts of human biology for better therapies.“concluded the scientist Adil Harroud.
