2023-06-29 15:31:04
Patients with multiple sclerosis see their condition deteriorate faster when they have a particular genetic mutation, finds a study published Thursday in the journal Nature. This discovery potentially opens a new field of therapeutic research.
“If this genetic mutation comes from both parents, it advances the time when a walker becomes necessary by almost four years”, summarizes the 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 (nearly three million patients worldwide). It causes an immune dysregulation which attacks an extension of the neuron – the axon -, with in particular the consequences of motor disorders.
The study authors – a large consortium of researchers from 70 countries – studied the genome of 12,000 patients to identify possible genetic mutations and study how they are associated with the speed of disease progression. .
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 told AFP, reporting however that this work arouses “a lot of enthusiasm” among researchers specializing in multiple sclerosis.
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