In a groundbreaking study involving more than 22,000 multiple sclerosis (MS) patients, researchers have identified a genetic variant that hastens the progression of the disease.
Multiple sclerosis is an autoimmune disorder characterized by the immune system attacking the brain and spinal cord, leading to relapses and long-term degeneration. While treatments for the inflammatory phase of the disease exist, none can effectively prevent the increased disability associated with the neurodegenerative phase.
Published in Nature on June 28, this study, conducted by Yale researchers in collaboration with the International MS Genetics Consortium, marks the first identification of a genetic variant that heightens the severity of MS. The variant is located near the DYSF and ZNF638 genes and has been found to expedite disease progression in patients who possess two copies of the variant.
Dr. David Hafler, Professor of Neurology and Immunobiology at Yale School of Medicine, and one of the study’s authors, explained, “While we have identified genetic variants that are predominantly immune-related and associated with the risk of developing MS, this is the first study to identify neuronal genetic variants associated with the neurodegenerative aspects of the disease.”
The study, which involved a genome-wide association analysis of over 12,000 MS patients, uncovered the genetic variant among more than 7 million variants examined. The researchers observed that individuals with two copies of the variant experienced faster disease progression, leading to the need for walking aids approximately four years earlier.
The genes in proximity to the variant, DYSF and ZNF638, are typically active within the brain and spinal cord, suggesting that the resilience and repair mechanisms of the nervous system play a crucial role in determining the course of MS progression.
To validate their findings, the scientists analyzed the genetics of an additional 10,000 MS patients, confirming that those with two copies of the variant faced accelerated disability.
This breakthrough provides valuable insights into the nervous system component of MS and opens new possibilities for the development of drugs aimed at preserving the health of individuals affected by the disease.
Reference: “Locus for severity implicates CNS resilience in progression of multiple sclerosis” by International Multiple Sclerosis Genetics Consortium and MultipleMS Consortium, 28 June 2023, Nature.
DOI: 10.1038/s41586-023-06250-x
Funding for this work was provided in part by the National Institute of Neurological Disorders and Stroke, the European Union’s Horizon 2020 Research and Innovation Funding Programme, and the Multiple Sclerosis Society of Canada.
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Frequently Asked Questions (FAQs) about Multiple Sclerosis Progression
What did the study involving multiple sclerosis patients discover?
The study identified a genetic variant that accelerates the progression of multiple sclerosis (MS). Patients with two copies of this variant, located near the DYSF and ZNF638 genes, experienced faster disease progression.
How many MS patients were involved in the study?
The study involved over 22,000 multiple sclerosis patients, making it a comprehensive analysis of a large population.
What is the significance of identifying this genetic variant?
The identification of this genetic variant provides valuable insights into the neurodegenerative aspects of MS and opens new avenues for the development of treatments to slow down the disease progression.
What are DYSF and ZNF638 genes, and why are they important?
DYSF and ZNF638 genes are genes associated with repairing damaged cells and controlling viral infection. The variant located near these genes suggests a possible mechanism for the accelerated progression of MS.
How was the study conducted to identify the genetic variant?
The researchers performed a genome-wide association study (GWAS) involving more than 12,000 MS patients. They analyzed over 7 million genetic variants to find the specific variant associated with faster disease progression.
Was the discovery of the genetic variant confirmed?
Yes, to validate their findings, the scientists analyzed the genetics of an additional 10,000 MS patients and found that those with two copies of the variant experienced accelerated disability, confirming the initial discovery.
What implications does this discovery have for MS treatment?
This discovery provides the field with a significant lead to address the nervous system component of MS and offers opportunities for developing new drugs to help preserve the health of MS patients.
Who funded this research study?
The research study received funding from various sources, including the National Institute of Neurological Disorders and Stroke (part of the National Institutes of Health), the European Union’s Horizon 2020 Research and Innovation Funding Programme, and the Multiple Sclerosis Society of Canada.
More about Multiple Sclerosis Progression
- Nature: Locus for severity implicates CNS resilience in progression of multiple sclerosis
- Yale School of Medicine: Genetic Breakthrough: What Makes Multiple Sclerosis Worse
- National Institute of Neurological Disorders and Stroke
- European Union’s Horizon 2020 Research and Innovation Funding Programme
- Multiple Sclerosis Society of Canada
5 comments
Finally, a step forward in understandin’ and fightin’ this progressive form of MS. This study shows that it’s not just the immune system, but also resilience and repair in the nervous system that determine the course of MS progression. Excitin’ times ahead for new therapies!
Wait, so MS progression is influenced by genes near DYSF and ZNF638? Fascinatin’! This study shows that neuronal genetic variants impact the neurodegenerative aspects of MS. Time to dig deeper into this incredible research!
omg! this study found a gene that makes ms go faster?! this is huuuge! now we can make new treatments to slow it down, yaaay!
this is a groundbreakin’ study involvin’ over 22k ms patients! they found a genetic variant that speeds up the disease progression. who knew genes could play such a big role in ms? mind blown!
I can’t believe they analyzed over 7 million genetic variants! Talk about dedication. But it paid off big time! Finding the variant associated with faster disease progression is a major leap towards unravelin’ the mysteries of MS. Keep up the amazin’ work, researchers!