For years, those of us with multiple sclerosis have been told that our disease is caused both by a genetic component and one or more environmental components. Unfortunately, no one knew what either of those components were. Recently, for folks with Primary Progressive MS, at least, things have changed.
The mutation was found on a gene called NR1H3, a gene that produces a protein known as LXRA. LXRA acts as an on-off switch on genes that are responsible for either stopping the excessive inflammation that damages myelin or helping create new myelin to repair the damage. The mutation of that gene—a substitution of just one nucleotide for another in the DNA—produces a defective LXRA protein that is unable to activate those other critical genes.
The mutation was found in two Canadian families that had several members diagnosed with PPMS. Two-thirds of the people in these families who had the mutation developed the disease.
At first blush, you might think that finding the gene would mean that someone would definitely end up with PPMS — but many folks with this specific genetic mutation are lucky enough to not end up with MS at all. In fact, only one in 1,000 MS patients appears to have this mutation – so, while this discovery is helpful, it’s not a determinant cause of MS. It’s just one piece of a larger puzzle.
“This mutation puts these people at the edge of a cliff, but something still has to give them the push to set the disease process in motion,” said senior author Carles Vilarino-Guell, an assistant professor of medical genetics and a member of the Djavad Mowafaghian Centre for Brain Health.
Rachael Shapiro Majka is a writer, health advocate, and stay-at-home mom who loves to cook, make music, and foster kittens. She earned a bachelor’s degree from Berklee College of Music and a juris doctor from Southwestern Law School. Diagnosed with MS in May of 2007 (which caused her to develop seizure disorder), she chronicles her quest to live the best life possible on the blog In It For The Parking and keeps up a popular Pinterest board of paleo recipes called the Paleo Compendium. She can also be found on Twitter and Facebook.
You may also enjoy reading other articles by Rachael: 5 ways to make your home MS friendly, having the best sex possible with multiple sclerosis and cinnamon helps to suppress symptoms.
Image from Medical News Today.