Genetic, environmental factors may together increase risk of MS through common cellular pathway

Scientists from Irvine, California and Toronto have just published an interesting study that explains how genetic and environmental factors may interact to cause MS. It's widely accepted that both types of factors are involved in triggering the disease, but so far very few ideas have been proposed and tested to show how this might happen. This study focused on a process called glycosylation, which is the attachment of certain sugars to proteins located on the surface of cells. The presence of these sugars affects how cells behave and respond to various signals, and in the case of immune cells, influences their ability to be activated to participate in an immune response. The research team had previously created a mouse model with genetic deficiences affecting glycosylation; these mice spontaneously developed an inflammatory demyelinating disease resembling MS, so the scientists hypothesized that this cellular function might also play a role in MS.

Through a series of studies, the team demonstrated that several MS risk factors (variants in the IL7RA, IL2RA, MGAT1 and CTLA-4 genes, and low levels of vitamin D) can alter the glycosylation process in ways that may both result in immune dysfunction and enhance the vulnerability of oligodendrocytes and neurons. In addition, these factors appear to have an increased effect when present together. The authors suggest that supplementation with vitamin D and N-acetylglucosamine may help to reduce the increase in MS risk associated with the glycosylation process.

Here's an article summarizing the paper, and here's the paper itself. The Accelerated Cure Project Repository provided DNA samples to Dr. Demetriou for this study, so we're pleased to have played a supporting role in generating these results.