Genetic marker discovered for the severity of multiple sclerosis
Analysis of data from more than 22,000 people with multiple sclerosis helped researchers identify a genetic variant that is associated with the severity of the disease
By Grace Wade
29 June 2023
Illustration of nerve cells damaged by multiple sclerosis
Science Photo Library/Alamy
Researchers have identified the first genetic marker of multiple sclerosis severity. The genetic variant was seen in people who experienced quicker progression of the disease, 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 lesions and leads to difficulties with walking, memory and other bodily functions. It is unclear why some people with the condition can live relatively normal lives with treatment while others experience rapid disease progression.
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So, Adil Harroud at McGill University in Canada and his colleagues performed a genome-wide association study using data from 22,389 people with multiple sclerosis. These types of studies use statistical analysis to pinpoint genes associated with certain characteristics, such as multiple sclerosis severity.
After analysing almost 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 walking assistance 3.7 years earlier than those without it.
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 the number of lesions in the outer layer of their brain and in their brainstem than those without it. The researchers say this indicates the variant has a connection to the neurological injuries that trigger the progression of multiple sclerosis.
