Identification of genetic variants may improve diagnosis of MS.
An individual carrying 2 particular gene variants may be up to 3 times more likely to develop multiple sclerosis (MS) compared with others who do not have the variants, according to a new study published by Cell.
The study authors reported that variants of IL7R and DDX39B were linked to an increased risk of developing MS. Previous studies have associated IL7R with MS, but the other gene variant was not previously implicated.
These findings may lead to the creation of more accurate risk-assessment tests for MS and other autoimmune disorders, according to the study.
MS is a major cause of neurological diseases among adults aged 20 to 50, and tends to affect more women than men. Although there are treatments that manage symptoms, there is no cure. Patients with MS may experience issues with vision, muscle control, balance, body functions, and eventually progress to disability. Treatments available to patients with MS are known to cause serious adverse events due to immune system suppression.
In the study, the researchers discovered that gene variants of IL7R and DX39B interact and cause over production of the sIL7R protein. It is known that the protein plays an important role in the immune system, but it is not completely understood, according to the study.
“Our study identifies an interaction with a known MS risk gene to unlock a new MS candidate gene, and in doing so, open up a novel mechanism that is associated with the risk of multiple sclerosis and other autoimmune diseases,” said co-lead study author Simon Gregory, PhD.
The investigators believe that these gene variants could be used to create a test that leads to more accurate diagnoses.
“We can use this information at hand to craft tests that could allow earlier and more accurate diagnoses of multiple sclerosis, and uncover new avenues to expand the therapeutic toolkit to fight MS, and perhaps other autoimmune disorders,” said first study author Gaddiel Galarza-Muñoz, PhD.
In some cases, it may take years for a patient to receive a diagnosis of MS without undergoing diagnostic tests. Due to a lack of treatment from delayed diagnosis, patients can progress and experience preventable nervous system damage.
With a more accurate risk-assessment tool, physicians would be able to easily screen patients with MS symptoms or a family history of the disease, according to the study. It could lead to increased monitoring and early diagnosis of patients with the disease.
“One could envision how this type of knowledge will someday lead to diagnose multiple sclerosis sooner and, now that we have promising therapies, a doctor could start the appropriate treatment more quickly,” said co-lead study author Mariano Garcia-Blanco, MD, PhD. “It is not out the realm of possibility to imagine a path for screening for other autoimmune diseases such as type 1 diabetes.”