Researchers have identified the first genetic marker of multiple sclerosis severity. The genetic variant was seen in people who experienced more rapid disease progression, resulting in greater disability. The finding could lead to more effective treatments for the condition.
Multiple sclerosis is a chronic neurodegenerative disease that causes brain damage and causes difficulties with walking, memory, and other bodily functions. It is not clear why some people with the condition can live relatively normal lives with treatment, while others experience rapid disease progression.
So, adil harroud at McGill University in Canada and colleagues conducted a genome-wide association study using data from 22,389 people with multiple sclerosis. These types of studies use statistical analysis to identify genes associated with certain characteristics, such as the severity of multiple sclerosis.
After analyzing nearly 8 million genetic variants, the researchers found one with a significant association with a score that measures disability in people with multiple sclerosis, adjusted for age. On average, people with the marker required assistance to walk 3.7 years sooner than those without.
The team then examined brain tissue samples collected from a separate group of 290 people with multiple sclerosis who had died. On average, those with the marker had nearly twice as many lesions in the outer layer of the brain and in the brain stem as those with the marker. without it. The researchers say this indicates that the variant has a connection to the neurological lesions that trigger the progression of multiple sclerosis.
The finding could help doctors identify which people with multiple sclerosis are more likely to have severe disease and adjust treatment plans accordingly, he says. Violaine Harris at the Tisch MS Research Center in New York. “These new data could also help us understand and even stratify patients when we are testing new treatment approaches,” she says.
One limitation of the research is that all the participants were of European descent. The researchers were unable to replicate the findings in two cohorts of people of African and Hispanic descent. They say this may be due to the small sample size of these cohorts.