Carriers of Specific Gene Variants Nearly 3 Times More Likely to Develop Multiple Sclerosis

Individuals who carry genetic variants in the genes IL7R and DDX39B have an increased risk of developing multiple sclerosis (MS), and potentially other autoimmune disorders, compared with those who do not carry the variant.

In a study published in Cell, investigators found that when 2 DNA variants in the DDX39B and IL7R genes are present in an individual’s genetic code, the interaction between the 2 can lead to overproduction of the protein sIL7R.

“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 lead author Simon Gregory.

The findings could aid in the development of more accurate tests to identify patients who are at a higher risk of developing MS.

“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 author Gaddiel Galarza-Muñoz.

MS accounts for an estimated 400,000 individuals in the United States and 2.5 million worldwide, according to the Multiple Sclerosis Foundation. As the disease progresses, it can lead to problems with vision, balance, basic body functions, muscle control, and could lead to disability. Currently, there is no cure for MS.

Unfortunately, receiving an official diagnosis can sometimes take years, allowing the disease to progress and further damage the nervous system before treatment begins. The development of more accurate measures of risk would allow health care providers to screen patients with a family history of MS or who are showing symptoms of 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 author Dr Mariano Garcia-Blanco. “It is not out [of] the realm of possibility to imagine a path for screening for other autoimmune disease such as type 1 diabetes,”

MS research became personal for Dr Garcia-Blanco after his daughter, who was in her late 20s, was diagnosed with the disease in 2012. At the time, he was already working on research related to MS, but his daughter’s diagnosis helped to refocus his efforts on his MS-related work.

“I’m much more aware now of how the work we do in the lab could someday lead to something that can be used to help those who have to live with MS,” Dr Garcia-Blanco said.