Patients with MS have long been observed to progress at different rates. Some patients have only one clinical MS flare in their lifetime while other patients have a rapid and brutal decline in a matter of months or years.
Some patients harbor the radiologic findings of MS and never exhibit any symptoms of MS (RIS).
A recent study published in Nature in 2020 reports the identification of a genetic variant that leads to faster MS progression. This variant is located between two genes that are active in the brain and spinal cord. One of these genes directs repairing damaged cells and the other combats viral infections. This international study conducted at over 70 institutions followed 22,000 patients. They studied the time it took an individual to reach a certain degree of disability. Inheriting two copies of this gene hastened decline faster. Inheriting this variant from both parents reduced the time to needing a walking aid, such as a cane or wheelchair, by approximately four years.
The good news is that finding a risk factor for worsened clinical outcomes in MS opens the door to more effective and targeted treatments. The study does not negate previous theories that immune system dysfunction underlies the mechanism behind MS. Rather, it helps explain why the same immune system dysfunction affects different MS patients so variably.
BeCare MS Link offers an objective tool to follow your clinical change from home and to help you partner with your treating clinician in making treatment decisions.
Reference: https://www.nature.com/articles/s41586-023-06250-x#group-1
I find this interesting as I’ve been wondering more and more about genetic factors. While certainly not the same, my uncle had Muscular Dystrophy. Being in the 80s, several doctors recommended that my parents have an abortion supposedly due to a high risk of me being born with it as well. Obviously they chose not to proceed with those recommendations.
And then 32 years later I’m diagnosed with MS which within a year was decided to be PPMS. As I think back to events in my life, I can see when it was RRMS..
I’ve been considering lately if some form of Health and Ancestry DNA testing might be a good idea?