In the world millions of people are affected but the development in the individual is not understood. Until the discovery of the gene that promises new hope for patients
Multiple sclerosis (MS) is a neurodegenerative disease caused by an abnormal reaction of the immune system, when it defends us against viruses or bacteria. With MS, the immune system mistakenly attacks the brain and spinal cord. According to the estimates of the Italian Multiple Sclerosis Association (AIMS) they are about 2.5-3 million people affected by the problem, of which about 122,000 in Italy and to date the triggering cause appears unknown.
A study of over 22,000 people with MS discovered the gene or genetic variant which causes it to progress faster. The action of the variant can permanently deprive patients of mobility, seriously worsening their living conditions.
The research work that led to the discovery of the gene is the result of a large international collaboration of over 70 institutions from around the world, led by researchers from UCSF, University of California-San Francisco, and those from the University of Cambridge. “We identified a significant association,” write the researchers, “related to the shortening of the median time to require a walking aid by a median of 3.7 years in homozygous carriers and with an increase in brainstem and cortical pathology in the brain tissue”.
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Despite the development of effective treatments for relapses, none can actually prevent it from getting worse. The risk of developing MS stems largely from malfunctions in the immune system and some of these dysfunctions can be treated, slowing down the disease. But, as mentioned, the general functioning of the disease is not understood. “These Risk Factors”explains Professor Sergio Baranzini, PhD, professor of neurology at the University of California, San Francisco (UCSF) and co-senior author of the study cited by the journal News Medical Life Sciences“do not explain why, 10 years after diagnosis, some MS patients are in wheelchairs, while others continue to run marathons”.
But now the new discovery could become a radical turning point to cure such a debilitating disease.
After sifting through over 7 million genetic variants, scientists have found one associated with faster progression of the disease. The variant lies between two genes not previously associated with MS, called DYSF and ZNF638. The former is involved in repairing damaged cells and the latter helps control viral infections. The proximity of the variant to these genes suggests that they may be responsible for the progression of the disease.
“These genes are normally active within the brain and spinal cord, rather than the immune system,” explained Adil Harroud, MD, lead author of the study and a former postdoctoral researcher in Baranzini’s lab. “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 better therapies.” To come to confirm the finding, the scientists studied the genetics of nearly 10,000 other MS patients.
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