Research carried out in collaboration with 70 specialized institutes from different countries discovered a genetic variant responsible for the worsening of multiple sclerosis (MS) , according to an article published in the specialized journal Nature . The discovery could lead to the development of a new, more effective drug against the progression of this disease.
More than 2.8 million people worldwide suffer from MS, a condition in which the immune system breaks down the protective covering of the nerves and this damage disrupts communication between the brain and body, causing a variety of symptoms. which include vision, movement and balance problems. Although there are treatments that help control the symptoms, there is no cure for the disease.
The recent study is the result of a broad collaboration of researchers from more than 70 institutes in which researchers first combined genetic data from more than 12,000 people with MS to study which variants they shared and how quickly their disease progressed.
Of seven million variants, only one was associated with the rapid progression of the disease, and it is the one " found between two genes called DYSF and ZNF638, which until now had not been related to MS ," the study detailed. by the AFP agency . While the first gene serves to repair damaged cells, the other helps control viral infections.
Those genes are much more active in the brain and spinal cord than in the immune system, where drug research has focused until now, the paper described.
"Inheriting this genetic variant from both parents advances by almost four years the time when a person will need help to walk," American researcher and co-author of the study, Sergio Baranzini, said in a statement.
The fact that the research targets the nervous system rather than the immune system "opens up a potential new avenue for treatments, which is really exciting," said Ruth Dobson, a neurologist at Queen Mary University of London, who was not involved in the study. the investigation.
Translated summary
Multiple sclerosis (MS) is an autoimmune disease of the central nervous system (CNS) that results in significant neurodegeneration in the majority of those affected and is a common cause of chronic neurological disability in young adults. Here, to provide insight into possible mechanisms involved in progression, we conducted a genome-wide association study of age-related MS severity score in 12,584 cases and replicated our findings in another 9,805 cases. We identified a significant association with rs10191329 at the DYSF-ZNF638 locus, whose risk allele is associated with a shortening in the median time to the need for a walking aid of a median of 3.7 years in homozygous carriers and with an increase of cortical and brainstem pathology in brain tissue. We also identified a suggestive association with rs149097173 at the DNM3-PIGC locus and a significant enrichment for heritability in CNS tissues. Mendelian randomization analyzes suggested a potential protective role for higher educational attainment. In contrast to immune-driven susceptibility, these findings suggest a key role for CNS resilience and potentially neurocognitive reserve in determining outcome in MS.
