While past research around multiple sclerosis (MS) has indicated that genetic factors could enhance the chance of getting the illness, no study has been able to link inherited factors to the disease … until now. A Canadian study coming out of Vancouver Coastal Health, along with the University of British Columbia has revealed an uncommon genetic mutation, that causes a form of the disease.
Led by Professor Carles Vilarno-Guell, the research team has proven that multiple sclerosis can occur from a lone genetic mutation, known as NR1H3. The gene creates a protein, which then actions an ‘on-off switch’ (so to speak), for other genes. The team goes on to state that other genes will try to either stop the inflammation that damages myelin, or try and produce new myelin to restore any impairment.
As fatty substance, myelin gets around neurons and aids in sending electrical signals to the brain. Should it get harmed, it interrupts the communication needed to help an individual’s body perform at optimal levels; thus creating muscle weakness, balance problems, vision issues, and other impairments associated to MS.
The team notes the findings in this study could help with therapies that focus on NR1H3, and counteract its devastating effects. The study team used blood samples from 4,400 participants with the disease, and 8,600 family blood members. The results revealed this mutation was found within two families in Canada, where several relatives had a fast-progressive type of MS. Within the families, two thirds of those participants with mutation ended up with the disease.
Still, the team notes merely one person, out of 1,000 with MS, have this certain mutation. Regardless, the results of this study link a biological connection that ends up to the rapidly-progressive type of the disease.
Vilarino-Guell notes those who have this gene are likely to develop MS, at a rapid rate. He goes on to states that this could provide an important (and early) window to potentially stop the disease, or slow it down.
Medical News Today reported that researchers noted that screening for the mutation could launch early diagnosis and treatment, before symptoms occur. An example of some precautions that could be made, is opting to increase vitamin D intake, for those people who carry the mutation within their family history; as low levels of vitamin D have been connect with multiple sclerosis in the past.