Multiple sclerosis, discovery of the indicator of the severity of the disease
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For the first time, a genetic variant associated with the severity of multiple sclerosis has been identified, a tell-tale that tells us how quickly the disease will progress. An important sign for a pathology that progresses progressively yes, but at a different pace for each of the people it affects. Therefore, knowing in advance what the trend will be is important news not only from a scientific point of view but also from a clinical point of view. The effort to achieve this has involved 70 universities around the world who have studied over 22,000 people with multiple sclerosis and for this they have earned the pages of Nature. “Inheriting the genetic variant we identified from both parents accelerates the time to needing a walking aid by nearly four years,” said Sergio Baranzini, PhD, professor of neurology at UCSF and co-senior author of the study. study.
Multiple sclerosis is an inflammatory and progressive disease caused by the immune system which, by mistake, affects the nervous system; its trend is in most cases characterized by an alternation of moments in which the symptoms are more serious and moments in which the disease seems to be silent. Drugs can slow the progression, which sometimes leads to disability, but not prevent it.
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The genetics that accelerate
Previous studies have shown that the susceptibility or risk of MS results largely from dysfunctions of the immune system and some of these dysfunctions can be treated, slowing down the disease. But “these risk factors don’t explain why, ten years after diagnosis, some people with MS are in wheelchairs while others continue to run marathons,” explained Baranzini.
The reason is the presence of a variant that lies between two genes that have never before been associated with the disease: DYSF and 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,” said Adil Harroud, MD, 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.”
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A massive effort
The result is the joining forces of two large MS research consortia: the International Multiple Sclerosis Genetics Consortium (IMSGC) and the MultipleMS Consortium. In Italy, thanks to funding from FISM (Italian Multiple Sclerosis Foundation) and the Ministry of Health, the research was coordinated by Sandra D’Alfonso, professor of Medical Genetics at the Department of Health Sciences of the University of Eastern Piedmont, in Novara , and involved PROGEMUS, the Italian network of MS centres, the University of Milan, the IRCCS San Raffaele Hospital in Milan.
The two consortia integrated data from more than 12,000 people with MS to complete a genome-wide association study (GWAS), which uses statistics to accurately associate genetic variants with particular traits. In this case, the traits of interest correlated with the severity of MS, including, for example, the years it took for each person to go from diagnosis to a certain level of disability.
To confirm their findings, the researchers studied the genetics of nearly 10,000 additional people with MS. Those with two copies of the variant develop disabilities faster. More work will be needed to determine exactly how this genetic variant affects DYSF, ZNF638, and the nervous system more generally. The researchers are also collecting an even larger set of DNA samples from people with MS, expecting to find other variants that contribute to long-term disability in MS. “Understanding how the variant affects MS severity will hopefully pave the way for a new generation of treatments that can prevent disease progression,” said Stephen Sawcer, professor at the University of Cambridge and co-senior author. of study.
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Precision medicine
“This work represents an important breakthrough in the field of precision medicine, as it could, for example, lead to the use of more aggressive therapies from the outset in those patients with genetic variants unfavorable for progression. Furthermore, the knowledge of this variant and of the two genes close to the variant could allow the development of new drugs that act on the mechanism of action of these two genes and slow down the progression of the disease”, concluded the Italian researchers involved Sandra D’Alfonso, Filippo Martinelli Boneschi and Federica Esposito.
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