2023-06-30 14:17:36
According to a study published Wednesday in the journal Nature, patients with multiple sclerosis see their condition deteriorate faster when they have a particular genetic mutation. “If this genetic mutation comes from both parents, it advances the time when a walker becomes necessary by almost four years”, summarizes researcher and neurologist Sergio Baranzini, from the University of California, co-author of the study, in a press release accompanying its publication.
Multiple sclerosis is a relatively widespread neurological disease (100,000 patients estimated in France, nearly three million worldwide). It causes an immune disorder that attacks an extension of the neuron – the axon –, with consequences in particular of motor disorders.
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“A new potential avenue of treatment”
In order to achieve this result, the authors of the study Nature – a large consortium of researchers from 70 countries – studied the genome of 12,000 patients. The objective: to identify possible genetic mutations and study to what extent they are associated with the rate of progression of the disease. One of these mutations clearly appeared to be linked to faster progression. It affects two genes, DYSF and ZNF638: the first is involved in the reconstruction of damaged cells, the second helps to control viral infections.
Of particular interest, the activity of these two genes is concentrated in the brain and spinal cord. However, at present, treatment research is not focusing on this area, but rather on the immune system. However, we still do not know how to cure the disease, or even slow it down. Current drugs aim to improve certain symptoms without being able to treat the background.
The discovery of this mutation therefore opens “a new potential avenue of treatment”, rather centered on the brain and the spinal cord, welcomed neurologist Ruth Dobson, who did not participate in the study. This prospect remains distant, she said, reporting however that this work arouses “a lot of enthusiasm” among researchers specializing in multiple sclerosis.
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