Researchers in Canada have identified a gene that appears to significantly increase the risk of developing a rare rapidly progressing form of MS.
They studied the DNA of just over 2,000 people with MS where multiple family members had MS. The study identified a mutation in gene called NR1H3 in two unrelated Canadian families. In these two families the people who developed MS had severe and rapidly progressing forms of the disease.
In the first family of eleven, five had MS and one without MS carried the gene. In the second family of ten, two people had MS and three people without MS carried the gene. Calculations showed that for the family members who had the gene mutation approximately 70% of them developed MS. This shows that although the gene can dramatically increase the risk of developing MS, carrying the gene does not always lead to MS, and suggests that other factors must also be involved in triggering the disease.
This is similar to previous research which has identified over 100 genes which can increase the risk of someone developing MS to a small degree. However environmental factors appear to play a role too, and there may be a trigger factor needed to cause MS in someone who may be susceptible.
The gene identified in the current study is believed to be a control switch for other genes with many functions including controlling inflammation. Its discovery could help uncover more detail about the processes that happen in MS and potentially help identify targets for new treatments or stopping MS activity.
- Neuron 2016;90(5):948–954. Full article Nuclear receptor NR1H3 in familial multiple sclerosis.