Scientists say they have found a gene that causes a rare but inherited form of multiple sclerosis.
It affects about one in every thousand MS patients and, according to the Canadian researchers, is proof that the disease is passed down generations, according to BBC.
Experts have long suspected there’s a genetic element to Multiple sclerosis (MS), but had thought there would be lots of genes involved, as well as environmental factors.
The finding offers hope of targeted screening and therapy, Neuron reports.
The University of British Columbia studied the DNA of hundreds of families affected by MS to hunt for a culprit gene.
They found it in two sets of families containing several members with a rapidly progressive type of MS.
In these families, 70% of the people with the mutation developed the disease.
Although other factors may still be important and necessary to trigger the disease process, the gene itself is a substantial causative risk factor that is passed down from parents to their children, say the researchers.
The mutation is in a gene called NR1H3, which makes a protein that acts as a switch controlling inflammation.
In MS the body’s immune system mistakenly attacks the protective layer of myelin that surrounds nerve fibres in the brain and spinal cord, leading to muscle weakness and other symptoms.
Studies in mice show that knocking out the function of the same gene leads to neurological problems and decreased myelin production.
The researchers believe stopping the inflammation early might prevent or delay the disease. They already have drugs in mind that might do this by targeting the NR1H3 gene pathway.
These drugs are in development for other diseases, including cardiovascular disease and diabetes.
H.Z