A very recent study was published in Nature on June 28th, 2023 where over 22,000 MS patients were tested to determine what affects the severity of MS. The head author of this study is named Adil Harruod and in this study a genetic variant was discovered that affects the extremity of MS overtime. There are two different types of MS, Relapsing-Remitting MS and Secondary Progressive MS. Many different treatments for relapses have been tested and created but there is no effective treatment for the constant degeneration that leads to disablement. Scientists have struggled constantly with how the severity of MS varies between patients. A professor of neurology at UCSF and co-author of this study said, “these risk factors don't explain why, 10 years after diagnosis, some MS patients are in wheelchairs, while others continue to run marathons.”
This study was the work of an international association made up of 70 programs called the International MS Genetics Consortium. David Hafler, the co-founder of this institution stated, “"While we have identified genetic variants that are predominantly immune related associated with risk of developing MS, this is the first study to identify neuronal genetic variants associated with the neurodegenerative aspects of the disease.” Many studies that have already been conducted link MS severity with issues relating to the immune system. Treatment for this dysfunctional immune system has been used to slow the progression of the disease, but as mentioned by Barizini the difference in intensity is still not explained. For the first part of this study a technique was used to connect genetic variants to traits. Through looking through almost 7 million different genetic variants, one was found between the genes DYSF and ZNF638 that linked to the hastened development of MS. This study also found that patients with two of these gene variants also had a quicker disease progression, so if this is inherited by both parents the disease will be accelerated by almost four years (Baranizini). To confirm these findings almost 10,000 more MS patients were tested and the same results were found. The patients with duplicate variants would experience a faster progression of disease and earlier disablement.
A research team from the Netherlands Institute of Neuroscience used donor brains to further solidify the findings of this study. Joost Smolders, a member of IMSGC brought attention to the fact that scientists are not able to tell the rate of disease progression in a patient. Therefore, the team in the Netherlands used donor brains to determine if the genetic marker created MS-related issues in patients' brains. Their results showed that if the patient was homozygous for this gene, their brain aberrations were doubled when compared to a patient without this genetic marker. Through the results from both of these studies, scientists will be able to conduct more research on the nervous system and this genetic variant. This will enable them to develop treatments to preserve the health and prevent the severity of Multiple Sclerosis.
Works Cited
Hathaway, Bill. “Genetic variant linked with faster progression of multiple sclerosis.” ScienceDaily, 28 June 2023, https://www.sciencedaily.com/releases/2023/06/230628130340.htm. Accessed 7 July 2023.
“What makes multiple sclerosis worse, and how to make it better.” ScienceDaily, 28 June 2023, https://www.sciencedaily.com/releases/2023/06/230628130323.htm. Accessed 7 July 2023.
Comments