Multiple sclerosis (MS) has been divided into different subtypes based on disease activity and progression. Some people have Radiologically Isolated Syndrome (RIS) in which the signs of MS are only MRI abnormalities without clinical symptoms, Clinically Isolated Syndrome (CIS) in which the person only has one clinical symptom in her lifetime, Relapsing Multiple Sclerosis (RMS) in which there are periods of disease activity mixed with periods of no new symptoms, Secondary Progressive Multiple Sclerosis (SPMS) in which patients with RMS have shorter intervals between disease activity with progressive disability, and Primary Progressive Multiple Sclerosis (PPMS) in which the disability is progressive from the onset without periods of disease inactivity. It is obvious that which category the patient falls into determines the expected rate of disease progression, particularly in terms of gait.
Some people will be in a wheelchair 10 years after diagnosis while others will be relatively asymptomatic, even running marathons. But why? In 2023, UCSF researchers reported discovering a specific genetic variant that, if inherited from both parents, would increase the odds of needing a wheelchair or other assistive walking device several years earlier than those without that genetic variant. This particular variant is located between two genes that are involved in repairing damaged cells and modifying the response to viral infections.
Clearly most MS patients, even those with rapid progression, do not inherit this variant from one, let alone two, parents. This discovery does, however, shed light on the impact of genetics in the origins and clinical course of MS in different patients. Much research is needed to uncover other mutations that may be involved in neuroinflammation and nerve cell repair. The most important takeaway is that this discovery opens the door to precision medicine for MS treatments. Precision medicine is tailoring an individual’s therapy based on her genetic, environmental and lifestyle factors.
The BeCare MS App can help you monitor the progression of your disease and aid you and your physician in determining when a change in therapy is warranted. Be empowered. Become a driver in your own MS journey.