An important international study, with a strong Italian participation, has made important discoveries in research on multiple sclerosis (MS). The findings of this research, published in the journal Nature, could open up new treatment options and give hope to millions of people affected by this debilitating neurological disease.
An important international study, with a strong Italian participation, has made important discoveries in research on multiple sclerosis (MS). The findings of this research, published in the journal Nature, could open up new treatment options and give hope to millions of people affected by this debilitating neurological disease.
MS is an autoimmune disease in which the immune system mistakenly attacks the brain and spinal cord, causing disability to accumulate over time. Despite advances in relapse management, the accumulation of long-term disability could not be prevented until now. This international study, involving more than 22,000 patients, has identified the first genetic variant associated with faster progression of MS.
According to Sergio Baranzini, a professor of neurology at the University of California, San Francisco (UCSF), inheriting this genetic variant from both parents accelerates the time a person needs a walking aid by almost 4 years. Collaboration between more than 70 institutions worldwide, led by UCSF and the University of Cambridge in the UK, has identified this first genetic marker related to MS severity.
The research was based on integrating data from more than 12,000 MS patients, using a genome-wide association study (GWAS) that looked at more than 7 million genetic variants. The researchers identified a genetic variant between two genes, called DYSF and ZNF638, that had not previously been associated with MS. The DYSF gene is involved in repairing damaged cells, while the ZNF638 gene helps control viral infections. The proximity of this variant to these genes suggests that they may be involved in disease progression.
To confirm the findings, the scientists looked at the genetic data of nearly 10,000 additional MS patients and observed that those who had two copies of the genetic variant developed disabilities faster. This finding is crucial because it suggests that resilience and repair in the nervous system may influence the course of MS progression, paving the way for more targeted and effective therapies.
According to Adil Harroud, first author of the study, the DYSF and ZNF638 genes are normally active in the brain and spinal cord, not in the immune system. This suggests that the focus of future treatments should be on these parts of the nervous system to preserve the health of MS patients. The identification of this genetic variant and associated genes could also pave the way for the development of new drugs that act on these mechanisms and slow down the progression of the disease.
Importantly, the research was made possible with funding from a variety of sources, including the US National Institute on Neurological Disorders and Stroke (NINDS), the European Union’s Horizon 2020 program, and the Multiple Sclerosis Society of Canada. . The Italian researchers involved in the study contributed significantly to all phases of the work, providing a large series of MS patients characterized in detail from a clinical point of view. This study therefore represents an important step forward in the field of precision medicine and could lead to more targeted and aggressive therapies to slow the progression of the disease.
However, further research will be needed to better understand how this genetic variant affects the DYSF and ZNF638 genes and the nervous system in general. Scientists are already collecting additional DNA samples from MS patients, with the aim of identifying other genetic variants that contribute to long-term disability in the disease.
Ultimately, these important research findings represent a significant breakthrough in the field of multiple sclerosis. The identification of a genetic variant associated with rapid disease progression opens new perspectives for the development of more effective treatments. This discovery could lead to targeted therapies that preserve patients’ health and slow the accumulation of disabilities over time, thereby improving the quality of life for people affected by MS.
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