The international multicenter study whose research has led to an important discovery, published in the journal Natureconcerning the first genetic variant associated with faster disease progression.
The variant was identified by conducting an analysis of over 22,000 people with multiple sclerosis, through a genome-wide association study (Gwas)which uses the statistic for accurately associate genetic variants with particular traitsin this case those relating to the severity of the disease.
After sifting through more than seven million genetic variants, researchers found one associated with faster progression. The variant lies between two genes with no previous association with Sm, called DYSF e ZNF638. The former is involved in repairing damaged cells, the latter helps control viral infections. The proximity of the variant to these genes suggests that they may be involved in disease progression. «These genes are normally active in the brain and spinal cord, and not in the immune system“, he has declared Adil Harroud, McGill University neurologist and first author of the study. “Our findings suggest that resilience and repair in the nervous system determine the course of MS progression and that we should focus on these parts of human biology for more effective therapies.”
“Inheriting this genetic variant from both parents accelerates the time to needing a walking aid by almost four years,” he said. Sergio Baranzini, neurology at UCSF University of California San Francisco and co-senior author of the study. “Understanding how the variant exerts its effects on MS severity will hopefully pave the way for a new generation of treatments that can prevent disease progression,” he said. Stephen Sawcer, professor at Cambridge University and another co-senior author.
Previous studies have shown that susceptibility or risk of MS results largely from immune system dysfunctions, and some of these dysfunctions can be treated, slowing down the disease. But “these risk factors do not explain why, ten years after diagnosis, some people with MS are in wheelchairs while others continue to run marathons,” explained Baranzini. The hope now is to find drugs that act on the mechanism of the two genes identified to slow down progress.
The study was conducted by more than 70 institutions from around the worldled by researchers from UCSF (USA) and the University of Cambridge (United Kingdom) with the collaboration in Italy of the University of Eastern Piedmont, the Irccs San Raffaele Hospital of Milan, the University of Milan, the Irccs Casa Sollievo della Sofferenza Foundation and the Santi Paolo e Carlo Asst of Milan.