After 30 years of work and studies the researchers have identified a new gene that may represent an important breakthrough for the treatment of Multiple sclerosis (MS).  

The disease is most common in young adults, with more than 90 percent of the cases being diagnosed before the age of 55, and fewer than five percent diagnosed before the age of five. Women are two to three times more likely to develop the disease, which afflicts about 350,000 patients in the United States. The current finding was reported early online July 29 in the journal Nature Genetics,

According to the researchers the newly discovered gene is located on chromosome 5, is involved in guiding the production of interleukin-7 receptor alpha (IL-7R) and it was associated with an increased susceptibility to the disease. Interleukin-7 receptor alpha (IL-7R) is a critical receptor for the development and growth of key immune system cells. Multiple sclerosis is a disease in which myelin, the fatty sheath surrounding axons, is attacked by the body’s own immune system which can cause “short circuits” in the body’s electrical system.

 “Our finding is very important because the genetic factors that are already known to be associated with multiple sclerosis only explain less than half of the total genetic basis for the disease,” said Simon Gregory, Ph.D., molecular geneticist at Duke’s Center for Human Genetics and first author of the paper. “We have identified a gene that increases an individual’s risk of MS by 30 percent and that this variant has an effect on the function of the gene.”

Gregory said that as research builds upon the altered function of IL-7R the mechanisms involved in the development of multiple sclerosis will be unlocked, which may lead to novel treatments for the disease or the identification of targets for new therapies.

The scientists involved in the current discovery analyzed genetic information from 12,360 people (both with and without MS) using "genomic convergence." This involves using several different independent techniques, then overlapping them to focus in on likely candidate genes.

“One of the greatest challenges in any effort to identify genes for complex diseases like multiple sclerosis is to see if results from one study population can be confirmed in others” said Silke Schmidt, Ph.D., co-first author of the paper who is also at the Duke Center for Human Genetics. “We showed that the exact same genetic change in IL-7R increased the risk of multiple sclerosis to a very similar extent in four different populations.”