In the race to develop preventative treatments for the disease known as MS, scientists believe they are now closer to finding its root causes.
Each year in Ireland, approximately 250 people are diagnosed with multiple sclerosis (MS), a disease that affects the central nervous system. In the body, cells from the immune system attack and damage the nerve cells’ protective sheath. This can have a significant impact on the quality of life for someone living with it.
While no treatment currently exists for MS, an international team of scientists led by the University of British Columbia has identified mutations in 12 genes believed to be largely responsible for the onset of the disease in families with multiple diagnoses.
Publishing its findings to PLOS Genetics, the team said that while only 13pc of those diagnosed with MS are believed to have a genetic form of the disease, those with these newly discovered mutations were estimated to have an up to 85pc chance of developing it in their lifetime.
Lead author of the study, Carles Vilariño-Güell, described these new genes as a “lighthouse illuminating where the root cause of MS is” and they could eventually lead to the development of preventative treatment for the disease.
As part of the study, researchers sequenced all known genes in three or more MS patients from 34 families and examined the genetic variants in family members both affected and unaffected by MS.
By looking at the genes of 132 patients, the team identified 12 genetic mutations that can lead to an overactive autoimmune system that attacks myelin, the insulating layer around nerves in the brain and spinal cord.
Vilariño-Güell and his team now want to develop cellular and animal models with the identified mutations to mimic the biological processes responsible for the onset of MS in patients.
“We have treatments that address the symptoms of MS, but not the causes. People with MS take drugs that reduce the attacks, but the disease still progresses,” said Vilariño-Güell. “Now, with knowledge of these mutations, which suggest a common biological process that leads to increased inflammation in MS families, we can try to address the root causes.”