- As of 2020, approximately 2.8 million people worldwide have multiple sclerosis (MS).
- There is currently no cure for MS and the symptoms of the disease can become severe over time, causing lifelong problems.
- Researchers at the University of California, San Francisco have discovered the first genetic marker associated with MS severity and progression.
- Scientists believe this discovery could aid in the development of new drugs to help slow the progression of the disease.
As of 2020, approx
There is currently no cure for MS. The disease affects each person differently in terms of when symptoms first occur and how severe they are.
As the body goes through a cycle of symptom flares and remissions, the severity of the disease can increase, leading to permanent mobility problems, vision loss, and even partial or total paralysis.
Now, researchers at the University of California, San Francisco have discovered the former
Scientists believe the discovery of the genetic marker could aid in the development of new drugs to help slow the progression of the disease.
This study was recently published in the journal
For this study, Dr. Sergio Baranzini, a professor of neurology at the University of California, San Francisco, and a co-senior author of the study, said he and his team set out to look for a genetic variant related to faster progression. of MS because the disease evolves differently in each person after diagnosis.
Neurological progression is a common feature in people with MS that is unrelenting and whether or not relapses are controlled, he said Medical News Today.
Some people have a very aggressive disease [that] they can impact their mobility and neurological function within a few years, while others experience a much more benign course. We knew genetics mattered for risk, but this variability in findings suggested that genetics may also play a role in severity.
Dr. Sergio Baranzini, co-senior author of the study
Dr Baranzini and his team used data from two large MS research consortia, The International Multiple Sclerosis Genetics Consortium (IMSGC) and The MultipleMS Consortium.
Data from both groups were combined to provide data from over 12,500 people with MS for a
From there, the study scientists sifted through more than 7.5 million genetic variants, eventually finding one associated with increased disease progression in people with MS.
This specific variant is found between two genes with no previous connection to called MS
To make sure their findings were correct, Dr Baranzini and his team then examined the genetics of nearly 10,000 people with MS. They found that those with two copies of that variant experienced faster progression to disability.
AS [with] most genetic variants, each person has two copies, Dr. Baranzini explained MNT extension.
We found that people with MS who inherit both copies from each parent achieve
EDSS 6 a key metric of severity, when people with MS need assistance walking nearly 4 years earlier than people who don’t have both copies.Dr. Sergio Baranzini
That’s a very substantial effect for a single genetic variant, he added. Furthermore, this variant affects genes that are active in the central nervous system, in stark contrast to risk-conferring variants, which overwhelmingly affect the immune system.
As there is currently no cure for MS, doctors use several
According to Dr. Baranzini, these study findings will help pave the way for a new class of therapies that will address progression and likely target the central nervous system.
Dr. Baranzini stressed that since developing therapies pose a great risk to the pharmaceutical industry, where only a small percentage of drugs make it to market, genetic information greatly reduces the risks for drug development.
This discovery will establish a series of development programs that will target the unmet need for disease progression in MS, he said MNT extension.
All drugs developed to control relapses are immunomodulators, which matches the genetics of the more than 200 variants associated with MS risk. The genetics of disease severity now suggest that the central nervous system should be the target of this new class of therapies.
As for the next steps in this research, Dr. Baranzini said that now that they’ve established that genetics play a role in disease severity, the IMSGC is preparing for a new genetics study with even more subjects.
Our previous experience with disease susceptibility indicates that larger study results in more discoveries, and we are excited to discover more genetic variants that could help develop more effective treatments for MS, he added.
Because MS affects the brain and nervous system, it can have a profound impact on a person’s ability to move, think, speak and see.
While scientists still aren’t clear on what causes MS, most agree that it has something to do with the body’s immune system mistakenly.
This attack damages a substance called
Other risk factors for MS include:
MNT extension spoke with Dr. Krupa Pandey, associate professor of neurology at Hackensack Meridian School of Medicine, director of Hackensack University Medical Center MS Center and director of clinical research at Neurosciences Institute, NJ, who was not involved in the current study, of its relevance.
This study is helpful in a few ways, he commented. It’s a step in the right direction in finding a link between genes and the severity of a disease.
It’s also useful because it provides further evidence that environmental factors, such as smoking, do indeed contribute to the worsening of the disease in genetically predisposed individuals. This is a great example of how both nature and nurture impact a disease, Dr. Pandey noted.
Findings like this could lead to future breakthroughs that can help us advise patients on how to not only adjust medication regimens, but change lifestyle factors, he added.
It is also useful for companies seeking MS therapies [to] enrolling patients with higher risks of progression to see if the drug is effective, he explained.
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