Multiple Sclerosis: Scientists Discover First Genetic Hint to Predict How Severe and Fast Multiple Sclerosis Can Progress
Multiple Sclerosis: Researchers have achieved a groundbreaking milestone in the study of multiple sclerosis (MS), a debilitating neurological disease affecting millions of people worldwide. A comprehensive study, encompassing over 22,000 individuals with MS, has successfully identified a genetic variant that is associated with a faster progression of the disease. This discovery represents a significant step forward in understanding the factors influencing the severity and advancement of MS, which can ultimately lead to a loss of mobility and independence for patients.
MS is characterized by an autoimmune response, whereby the body’s immune system erroneously attacks the central nervous system, including the brain and spinal cord. This immune assault results in relapses of symptoms known as flares, as well as long-term degeneration called progression. While there are treatments available to manage the inflammatory aspects of the autoimmune disease, no interventions currently exist to halt the escalating disability during the neurodegenerative phase.
Published in the esteemed journal Nature on June 28, the study involved a collaborative effort among researchers from Yale University and various other institutions. This research breakthrough represents a critical development in the understanding of progressive MS, as it is the first time a genetic variant associated with increased disease severity has been identified.
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Dr. David Hafler, an esteemed professor of Neurology and Immunobiology at Yale School of Medicine and a contributing author to the study, highlighted the importance of this discovery. He explained that while previous research has identified genetic variants primarily linked to the immune system and the risk of developing MS, this study stands out as the first to identify genetic variants specific to neurons associated with the neurodegenerative aspects of the disease.
The investigation was conducted under the auspices of the International MS Genetics Consortium (IMSGC), a global collaborative effort involving over 70 institutions. Prior research has highlighted the crucial role of immune system dysfunction in MS susceptibility. However, this study sought to delve deeper and explore the genetic factors contributing to disease progression.
To unravel these intricacies, the researchers performed a genome-wide association study (GWAS) using data from more than 12,000 individuals with MS. This approach involves analyzing a vast array of genetic variants and their correlation with specific traits. In this case, the researchers focused on traits related to MS severity, including the time taken for each patient to reach a particular level of disability after diagnosis.
After meticulously sifting through over 7 million genetic variants, the scientists discovered a specific variant that was associated with a swifter progression of the disease. This variant resides between two genes, DYSF and ZNF638, neither of which had been previously linked to MS.
Remarkably, the study found that individuals with MS who possessed two copies of this gene variant, situated near genes responsible for repairing damaged cells and controlling viral infection, experienced an accelerated disease progression. In fact, those who inherited this variant from both parents reached the point of requiring walking aids nearly four years earlier than their counterparts.
Dr. Sergio Baranzini, a co-senior author of the study and a professor of neurology at the University of California, San Francisco, highlighted the significance of this finding, stating, “These genes are normally active within the brain and spinal cord, rather than the immune system. 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 validate and reinforce their findings, the researchers further examined the genetics of nearly 10,000 additional MS patients. Once again, the results confirmed that those with two copies of the identified variant experienced a more rapid disability progression.
This groundbreaking discovery provides researchers and clinicians with a newfound opportunity to develop innovative treatments that may help preserve the health and well-being of individuals living with MS. By elucidating the role of genes involved in the resilience and repair mechanisms within the nervous system, scientists can direct their efforts toward.
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FAQs
What is Multiple Sclerosis?
Ans. Multiple sclerosis (MS) is a neurological disease where the immune system mistakenly attacks the protective covering of nerve fibers in the brain and spinal cord. This disrupts the normal flow of electrical signals, leading to a wide range of symptoms such as fatigue, difficulty walking, numbness, and problems with coordination and balance.
Is Multiple Sclerosis a Serious Health Condition?
Ans. Yes, multiple sclerosis (MS) is a serious condition. It is a chronic neurological disease that affects the central nervous system, leading to a wide range of symptoms and potentially impacting a person’s mobility, coordination, and overall quality of life.
