These findings suggest that such changes — external modifications to DNA that turn genes “on” or “off” — may be a potential biomarker for progressive MS, the researchers said.
The details were published in the journal Nature Scientific Reports, in the study “Epigenetic differences at the HTR2A locus in progressive multiple sclerosis patients.”
A combination of genetic predisposition and environmental factors is thought to trigger the immune system attack on the brain and spinal cord in people with MS, causing their symptoms.
Environmental factors can influence genetics via epigenetic mechanisms that control gene activity. In one such mechanism, enzymes add so-called methyl groups to DNA, without changing its sequence, to suppress gene activity. This process is known as DNA methylation.
Studies investigating DNA methylation in immune cells isolated from people with relapsing-remitting MS (RRMS) found significant changes in methylation patterns in genes that play a critical role in immune responses. In particular, the gene variant HLA-DRB1 15*01, associated with an increased risk of developing MS, had significantly lower DNA methylation, thus increasing gene activity.
However, understanding which factors drive MS progression, leading to further disability, is limited. Thus, an epigenetic analysis of cells from people with progressive MS may help find important biomarkers to measure the course of the disease as well as to identify potential therapeutic targets.
To this end, researchers based at the University of Newcastle, in Australia, collected blood samples from 23 female SPMS patients and 16 age-and gender-matched healthy people (controls) to analyze DNA methylation patterns in their immune CD4-positive T-cells, which are central to immune responses.
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