The mutation of gene NR1H3 was found in seven of 2,000+ people with MS, and 70% of the people with this mutation went on to develop MS. Blood samples with this mutation were taken from two Canadian families who have members with primary progressive MS. Although this mutation is rare, it could an important marker for those diagnosed with PPMS, and help scientists understand the disease process behind PPMS.
This discovery relates to inflammation, lipids, and vascular health, as the NR1H3 gene encodes liver receptor protein A (LXRA) If there is a mutation, liver receptor proteins are dysregulated, lipids cannot be processed and inflammation occurs. But the UBC press release doesn't even mention this.
Cardiovascular researchers have found an NR1H3 mutation related to vascular inflammation, coronary artery disease, diabetes, metabolic disease, and serum lipid processing.
Liver X receptor (LXR) proteins are mainly found in the liver and adipose, or fat tissue. They help the body process fats and cholesterol. link
LXR proteins are expressed on endothelial cells and in adipose (fat) tissue, and affect the inflammatory response.
Now, understanding this information, here is Dr. Traboulsee on this discovery of an NR1H3 mutation in MS-
All of the above lifestyle interventions help counteract the influence of dysregulated LXR proteins by limiting damaging fats, decreasing inflammation, and strengthening the vascular endothelium; giving the heart, liver and brain their healthiest environment. It will not change the genetic mutation, but it can help modify and calm the body's inflammatory response. Today. link
Because there has been an incredible amount of research recently pointing to food and MS progression. The western diet harms the microbiome and increases inflammation link link
and fasting reduces inflammation. link
In fact, your own colleague at UBC, Dr. Helen Tremlett, recently published on the inflammatory gut microbiota associated with children with MS. link