Researchers link gene mutation to severe form of MS

June 3, 2016 Providence Health Team

Canadian researchers have found a genetic mutation linked to a severe and progressive form of MS, and they hope their work helps in the search for treatments for the disease.

Researchers from the University of British Columbia focused on two unrelated Canadian families to see whether members of each shared genetic consistencies that could account for MS, an unpredictable disease in which the immune system attacks the central nervous system.

In diagnosing MS, doctors use MRI to look for lesions on the brain and spinal cord that can lead to vision, memory and thinking problems. People with MS also can lose their ability to walk due to balance and coordination problems, and stiffness.

‘At the edge of a cliff’

The researchers found that seven people from the families they studied carried a mutation to the gene NR1H3, which helps regulate inflammation:

In one family, five members carried the gene mutation and had primary-progressive MS. A second family had two relatives with the mutation and primary-progressive MS. Three more relatives carried the genetic mutation but had not been diagnosed with MS at the time of the study.

“This mutation puts these people at the edge of a cliff, but something still has to give them the push to set the disease process in motion,” said the study’s senior author, Carles Vilarino-Guell, an assistant professor of medical genetics and a member of the Djavad Mowafaghian Centre for Brain Health.

Poor prognosis

Close to 15 percent of MS patients develop the severe form of the disease. The Canadian researchers believe that people who carry the gene mutation have at least a 66 percent chance of developing the severe form of MS.

“If you have this gene, chances are you will develop MS and rapidly deteriorate,” said study co-author Anthony Traboulsee, M.D., the MS Society of Canada research chair at UBC and director of Vancouver Coastal Health’s MS and Neuromyelitis Optica Clinic. “This could give us a critical early window of opportunity to throw everything at the disease, to try to stop it or slow it. Until now, we didn’t have much basis for doing that.”

Read more about the study here.

Causes of MS

In addition to genetics, four other factors have been linked to MS:

  1. Lower levels of vitamin D: Many researchers believe vitamin D may help regulate the immune system and reduce the risk of MS. People who live near the equator, where sunlight – which helps the body produce vitamin D – is plentiful, show a much lower risk of the disease than people in more temperate areas in the U.S.
  2. Smoking: Numerous studies have found that smokers develop MS more often than non-smokers, and tend to have more brain lesions and brain shrinkage.
  3. Infectious factors and viruses: Epstein Barr virus, usually associated with mononucleosis, has been consistently linked to the development of MS.
  4. Autoimmune and inflammatory processes:  Studies have suggested that MS can develop when regulation of the immune system breaks down.

Symptoms of MS

The National Institutes of Health divides symptoms for multiple sclerosis into two categories: initial and late-stage.

Initial symptoms include:

  • Vision problems such as blurred or double vision
  • Weak, stiff muscles, often with painful muscle spasms
  • Tingling or numbness in the arms, legs, trunk or face
  • Clumsiness and difficulty with balance when walking
  • Bladder-control problems
  • Dizziness that will not go away

Late-stage symptoms include:

  • Mental or physical fatigue
  • Mood changes such as depression or euphoria
  • Changes in the ability to concentrate or to multitask effectively
  • Difficulty making decisions, planning or prioritizing at work or in private life

Visit the National Multiple Sclerosis Society to learn more about MS, which affects 2.3 million people worldwide.

If you suspect that you may have symptoms of MS, talk to your health care provider about a full evaluation. You can find a Providence provider here.

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